A. disorders of amino acid metabolism classical phenylketonuria and hyperphenylalaninemia
|
|
- Lucinda Wiggins
- 5 years ago
- Views:
Transcription
1 OMIM # FULL NAME A. disorders of amino acid metabolism classical phenylketonuria and hyperphenylalaninemia phenylketonuria due to PTPS deficiency phenylketonuria due to DHPR deficiency phenylketonuria due to PCD deficiency DOPA-responsive dystonia (TH, SPR, GCH1) leucinose, maple syrup urine disease (MSUD) tyrosinemia type tyrosinemia type tyrosinemia type alkaptonuria homocystinuria, B6 responsive and non responsive homocystinuria due to MTHFR deficiency homocystinuria-megaloblastic anemia Cbl E & G type methionine S-adenosyltransferase deficiency glycine N-methyltransferase deficiency S-adenosylhomocystine hydrolase deficiency hyperammonemia due to CPS deficiency hyperammonemia due to OTC deficiency citrullinemia type I citrullinemia type II argininosuccinic aciduria (ASL deficiency) argininemia (arginase deficiency) hyperammonemia due to NAGS deficiency hyperornithinemia, hyperammonemia, homocitrullinuria (HHH) lysinuric protein intolerance gyrate atrophy, B6 responsive or non responsive hyperlysinemia (alpha-aminoadipic semialdehyde synthase deficiency) non ketotic hyperglycinaemia hartnup disorder Disorders of serine metabolism Disorders of proline/hydroxyproline/pyrroline carboxylate metabolism hypotonia-cystinuria Lowe oculocerebral syndrome B. organic acidemias methylmalonic aciduria (CblA,B,C,D,F) methylmalonic aciduria mutase deficiency type
2 transcobalamin 2 deficiency propionic acidemia isovaleric aciduria methylcrotonylglycinuria methylglutaconic aciduria type 1, 2, 3, 4, HMG CoA lyase deficiency glutaric aciduria type glutaric aciduria type 2 (MADD) L-2 and D-2-OH glutaric aciduria hydroxybutyric aciduria (SSADH deficiency) isobutyryl CoA dehydrogenase deficiency (ACAD8) short/branched chain acylcoa dehydrogenase deficiency (SBCADD) malonic aciduria C. biotin-responsive disorders holocarboxylase synthase deficiency biotinidase deficiency biotin responsive basal ganglia disease D. disorders of carbohydrate metabolism and glycogen storage diseases sucrase isomaltase deficiency congenital glucose/galactose malabsorption hereditary fructose intolerance galactosemia (uridylyltransferase deficiency) galactosemia (epimerase deficiency) galactosemia (galactokinase deficiency) transaldolase deficiency pyruvate carboxylase deficiency phosphoenolpyruvate carboxykinase (PEPCK) deficiency fructose 1,6-bisphosphatase deficiency glycogenose 0 (glycogen synthase deficiency) glycogenose Ia and Ib (G6Pase) glycogenose 3 Cori glycogenose 4 Andersen glycogenose 5 Mc Ardle glycogenose 6 Hers glycogenose 7 Tarui glycogenose IX phosphorylase kinase glycogenosis X (phosphoglycerate mutase deficiency) phosphoglycerate kinase deficiency
3 lactate dehydrogenase deficiency (type XI) aldolase A deficiency (type XII) β-enolase deficiency (type XIII) glucose transporter defect De Vivo syndrome (GLUT-1) fanconi-bickel syndrome (GLUT-2) E. hyperinsulinism hyperinsulinism-hyperammonemia syndrome (HiHa) and familial hyperinsulinemic hypoglycemia, types 1-7 F. disorders of mitochondrial energy metabolism pyruvate dehydrogenase deficiency mitochondrial complex I deficiency mitochondrial complex II deficiency mitochondrial complex III deficiency mitochondrial complex IV deficiency mitochondrial complex V deficiency and mitochondrial DNA mutation/deletion/elongation and nuclear DNA mutation affecting mitochondrial structure and/or function and mitochondrial DNA depletion syndrome clinical syndrome associated with mitochondrial disorder and (report+board advise) and krebs cycle enzyme deficiencies coq10 synthesis defects G. mitochondrial beta oxidation defects camitine transporter deficiency camitine palmitoyltransferase 1 deficiency camitine translocase camitine palmitoyltransferase 2 deficiency short chain acyl coa dehydrogenase deficiency (SCADD) short chain 3 oh acyl coa dehydrogenase deficiency (SCHADD) medium chain acyl coa dehydrogenase deficiency (MCADD) long chain acyl coa dehydrogenase deficiency (LCADD) long chain 3 oh acyl coa dehydrogenase deficiency (LCHADD) very long chain acyl coa dehydrogenase deficiency (VLCADD) mitochondrial trifunctional protein
4 H. disorders of ketone body metabolism hydroxy-3-methylglutaryl-coA synthase deficiency hydroxy-3methylglutaryl-coA lyase deficiency succinyl-coa 3-oxoacid coa transferase deficiency (scot) β-ketothiolase deficiency I. disorders of sterol, bile acid, lipid and lipoprotein metabolism smith-lemli-opitz syndrome mevalonic aciduria β-hydroxy δ5 c27 hydroxysteroid dehydrogenase deficiency α methylacyl-coa racemase deficiency δ4-3-oxosteroid 5β reductase deficiency oxysterol 7α hydroxylase deficiency cerebrotendinous xanthomatosis familial lipoprotein lipase deficiency & apo c2 deficiency Abetalipoproteinemia Tangier disease and Inborn hypertriglyceridemia and lipodystrophy syndromes LCAT-deficiency (Norum disease and Fish-eye disease) Hypo-alphalipoproteinemia LPIN1 lipid myopathy Wolman & cholesteryl ester storage disease J. peroxisomal disorders zellweger spectrum (peroxisome biogenesis defects) acyl-coa oxidase deficiency D-bifunctional protein deficiency methyl-CoA racemase deficiency X-linked adrenoleukodystrophy Rhizomelic chondrodysplasia punctata Refsum disease Refsum disease infantile form K. lysosomal disorders glycogen storage disease type 2 (Pompe) glycogen storage disease type 2b (Danon and PRK- AG2) Gaucher disease, type I, II and III Fabry disease Hurler-Scheie disease (MPS I)
5 Hunter disease (MPS II) Sanfilippo A; B; C; D (MPS III) MPS types (IV, V, VI, VII, VIII) Niemann-Pick type A and B Niemann-Pick type C and GM1 and GM2 gangliosidosis Metachromatic Leukodystrophy Krabbe leukodystrophy Mannosidosis Sialidosis and galactosialidosis I-cell disease and mucolipidosis II/III Free sialic storage diseases Mucolipidosis IV Fucosidosis multiple sulfatase deficiency Farber lipogranulomatosis and ceroid lipofuscinosis type 1-10 L. disorders of purine and pyrimidine metabolism phosphoribosyl pyrophosphate synthetase superactivity adenylosuccinate lyase deficiency xanthinuria Lesch-Nyhan syndrome M. disorders of creatine metabolism guanidinoacetate methyltransferase deficiency (GAMT) arginine:glycine amidinotransferase deficiency (AGAT) creatine transporter deficiency N. disorders of neurotransmitter and small peptide metabolism and γ-glutamyl transpeptidase deficiency and disorders of glutathion metabolism folate transporter defects trimethylaminuria & dimethylglycine dehydrogenase deficiency aromatic amino-acid decarboxylase (AADC) gaba transaminase deficiency monoamine oxidase deficiency dopamine beta-hydroxylase deficiency pyridoxine dependent seizures pyridoxamine 5-phosphate oxidase deficiency (pyri-
6 doxal-p responsive seizures) molybdenum cofactor deficiency, sulfite oxidase deficiency acetylaspartic aciduria (Canavan s disease) O. Congenital defects of glycosylation (CDG) and Congenital disorders of N- and/or O-glycosylation P. porphyrias aminolevulinic acid synthase deficiency aminolevulinic acid dehydratase porphyria acute intermittent porphyria hereditary coproporphyria variegate prophyria congenital erythropoietic porphyria erythropoietic protoporphyria Q. disorders of copper metabolism menkes disease Wilson disease R. progressive neurodegenerative diseases Alexander disease (GFAP) Infantile neuroaxonal dystrophy (PLA2G6) Vanishing white matter disease Pelizaeus-Merzbacher disease S. connective tissue disorders and osteogenesis imperfecta
Diagnose a broad range of metabolic disorders with a single test, Global MAPS
PEDIATRIC Assessing or diagnosing a metabolic disorder commonly requires several tests. Global Metabolomic Assisted Pathway Screen, commonly known as Global MAPS, is a unifying test for analyzing hundreds
More informationWhen users open the application interface, the starting page presents a disclaimer. Upon agreeing to the
Walkthrough of IEMbase When users open the application interface, the starting page presents a disclaimer. Upon agreeing to the disclaimer, users are directed to the main page, which presents a search
More informationAll diseases on Foresight
All diseases on Foresight Disease 11-Beta-Hydroxylase- Deficient Congenital Adrenal Hyperplasia 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 3-Hydroxy-3-Methylglutaryl- CoA Lyase Deficiency
More informationCHRONIC MYELOGENOUS LEUKEMIA
CHRONIC MYELOGENOUS LEUKEMIA SHUFFLING THE GENETIC DECK IN CML 9 9 (q+) 22 Ph (22q-) bcr bcr-abl abl Fusion protein causes cancer GLEEVEC AND BCR-ABL FUSION PROTEIN GENETIC MEDICINE A. Genetic diseases
More informationBROADENING YOUR PATIENT S OPTIONS FOR GENETIC CARRIER SCREENING.
BROADENING YOUR PATIENT S OPTIONS FOR GENETIC CARRIER SCREENING. The Inheritest SM Carrier Screen provides relevant genetic screening for many inherited diseases found throughout the pan-ethnic US population.
More informationTable S5. Disease pairs that have a significant comorbidity and are connected in either KEGG or BiGG database
Table S5. Disease pairs that have a significant comorbidity and are connected in either KEGG or BiGG database Coincide nce Expected coincidence Maximum possible comorbidity Disease1 Disease2 Link(KEGG)
More informationFurther expansion of the neonatal screening panel in the Netherlands
Further expansion of the neonatal screening panel in the Netherlands J.Gerard Loeber APHL-NBSGT, St.Louis (MO), USA 290216 Population Area Newborns 6.01 million 0.35:1 16.8 million 180,693 sq km 4.3:1
More informationCOMMON INHERITED METABOLIC CONDITIONS IN SOUTH AFRICA DIAGNOSING RARE DISEASE IN GENETICALLY UNIQUE AND UNDERSTUDIED POPULATION GROUPS
COMMON INHERITED METABOLIC CONDITIONS IN SOUTH AFRICA DIAGNOSING RARE DISEASE IN GENETICALLY UNIQUE AND UNDERSTUDIED POPULATION GROUPS S MELDAU, G VAN DER WATT INHERITED METABOLIC DISEASES GROUP UCT /
More informationFor Your Baby s Health Department of Health
Newborn Screening For Your Baby s Health Department of Health Why is my baby tested? To help make sure your baby will be as healthy as possible. The blood test provides important information about your
More informationNational Metabolic Biochemistry Network Best Practice Guidelines. The Biochemical Investigation of Fits and Seizures for Inherited Metabolic Disorders
Introduction National Metabolic Biochemistry Network Best Practice Guidelines The Biochemical Investigation of Fits and Seizures for Inherited Metabolic Disorders These guidelines describe the differential
More informationApproach to diagnosis of metabolic diseases
Translational Science of Rare Diseases 1 (2016) 3 22 DOI 10.3233/TRD-160001 IOS Press 3 Approach to diagnosis of metabolic diseases Enid Gilbert-Barness a,b and Philip M. Farrell c,d, a Department of Pathology,
More informationDisorders Disorder No.
Part Three Indices Index A Abetalipoproteinemia 28.9 Aceruloplasminemia 33.6 a-n-acetylgalactosamine 4-sulfatase deficiency 18.9 Acetyl CoA: a-glucosaminide N-acetyltransferase deficiency 18.5 Acid maltase
More informationMISSOURI DEPARTMENT OF HEALTH AND SENIOR SERVICES
NEWBORN SCREENING Protecting your newborn MISSOURI DEPARTMENT OF HEALTH AND SENIOR SERVICES [ 1 ] NEWBORN SCREENING [ 2 ] FREQUENTLY ASKED QUESTIONS [ 4 ] DISORDERS INCLUDED IN NEWBORN SCREENING [ 12 ]
More informationRoutine Newborn Screening, Testing the Newborn Inherited Metabolic Disorders Update August 2015
Routine Newborn Screening, Testing the Newborn Inherited Metabolic Disorders Update August 2015 Metabolic birth defects can cause physical problems, mental retardation and, in some cases, death. It is
More informationCurrent Management and Future Developments in Metabolic Disease
Current Management and Future Developments in Metabolic Disease APAGBI Annual Scientific Meeting Friday 15 th May 2015 Dr Saikat Santra Birmingham Children s Hospital, UK Outline Metabolic disorders in
More informationBeyond the case for NBS in South Africa. Chris Vorster 28/05/2016
Beyond the case for NBS in South Africa Chris Vorster 28/05/2016 The case for NBS in SA Economic justification Cost Utility analysis = Cost/QALY GDP/Capita Immediate implementation (WHO) Political justification
More informationMEDICAL COVERAGE GUIDELINES ORIGINAL EFFECTIVE DATE: 12/19/17 SECTION: MEDICINE LAST REVIEW DATE: LAST CRITERIA REVISION DATE: ARCHIVE DATE:
MEDICAL FOODS Non-Discrimination Statement and Multi-Language Interpreter Services information are located at the end of this document. Coverage for services, procedures, medical devices and drugs are
More informationNEWBORN SCREENING. health.mo.gov/newbornscreening MISSOURI DEPARTMENT OF HEALTH AND SENIOR SERVICES
NEWBORN SCREENING health.mo.gov/newbornscreening MISSOURI DEPARTMENT OF HEALTH AND SENIOR SERVICES Table of Contents NEWBORN SCREENING...1 FREQUENTLY ASKED QUESTIONS...2 DISORDERS INCLUDED IN NEWBORN SCREENING...4
More informationN.I.R.M.A.N. Dr. ANIL B. JALAN (MD DCH MCPS) Test list Oct 2017
Tests and Profiles Tests Method Sample Needed TAT Genetic Consultation / - All samples to be sent at 2 8 C. Counseling 1 Urine MRST - 15 ml Urine 24 hrs 2 Sr. Ammonia, Lactate, Sugar Fuji Dry Chem 2 ml
More informationMost common is the congenital adrenogenital syndrome (AGS) or congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency.
Newborn Screening Examination parameters: TSH-neonatal (hypothyreosis), 17-OH progesterone (AGS), galactose (galactosemia), galactose-uridyl transferase (galacto semia), biotinidase (biotinidase ), phenylalanine
More informationCLINICAL AND HUMAN TESTING
CLINICAL AND HUMAN TESTING CARRIER SCREENING FOR FAMILY PLANNING Let knowledge be your guide. Identify genetic conditions before or during a pregnancy to help predict the chances of having a child with
More informationSummary. Syndromic versus Etiologic. Definitions. Why does it matter? ASD=autism
Summary It is becoming clear that multiple genes with complex interactions underlie autism spectrum (ASD). A small subset of people with ASD, however, actually suffer from rare single-gene Important to
More informationInborn Errors of Metabolism (IEM) An Indian Perspective
Symposium on Fest - Schrift for Late Dr. P.M. Udani Inborn Errors of Metabolism (IEM) An Indian Perspective N.B. Kumta Department of Pediatrics, KEM Hospital, Mumbai, Maharashtra, India. Abstract. The
More informationPREDICAGEN LLC REPORT
The report below is a scientific interpretation of the DNA variants (referred as RS numbers) to the customer by a third party (for example 23andMe). The report should not be considered exclusive, because
More informationINBORN ERRORS OF METABOLISM (IEM) IAP UG Teaching slides
INBORN ERRORS OF METABOLISM (IEM) 1 OBJECTIVES What are IEMs? Categories When to suspect? History and clinical pointers Metabolic presentation Differential diagnosis Emergency and long term management
More informationThe spectrum and outcome of the. neonates with inborn errors of. metabolism at a tertiary care hospital
The spectrum and outcome of the neonates with inborn errors of metabolism at a tertiary care hospital Dr. Sevim Ünal Neonatology Division, Ankara Children s Hematology Oncology Research Hospital, Ankara,
More informationMetabolic Changes in ASD. Norma J. Arciniegas, MD Simón E. Carlo, MD Instituto Filius
Metabolic Changes in ASD Norma J. Arciniegas, MD Simón E. Carlo, MD Instituto Filius 12 patients 3 Autism: Ages 3/3/3.7 3 PDD: Ages 3/3/6 3 Asperger: Ages 6/7/15.1 3 Speech delay and Sensory Problems (SHL):
More informationHA Convention 2016 Master course How to Handle Abnormal Newborn Metabolic Screening Results Causes, Management and Follow up
HA Convention 2016 Master course How to Handle Abnormal Newborn Metabolic Screening Results Causes, Management and Follow up Dr. Josephine Chong Clinical Professional Consultant Centre of Inborn Errors
More informationPaediatric Inherited Metabolic Medicine
RCPCH Progress Paediatric curriculum for excellence Paediatric Inherited Metabolic Medicine Level 3 Paediatrics Sub-specialty Syllabus Version 1 Approved by the GMC for implementation from 1st August 2018
More informationNEWBORN SCREENING. in Massachusetts: Answers for You and Your Baby. University of Massachusetts Medical School
University of Massachusetts Medical School NEWBORN SCREENING in Massachusetts: Answers for You and Your Baby New England Newborn Screening Program Biotech 4, 2nd Floor UMass Medical School 377 Plantation
More informationTraining Syllabus CLINICAL SYLLABUS
Training Syllabus CLINICAL SYLLABUS SYLLABUS FOR TRAINING IN CLINICAL PAEDIATRIC METABOLIC MEDICINE Updated July 2006 This syllabus is intended as a guide. Whilst the training should be comprehensive,
More informationDoenças Hereditárias do Metabolismo: de Garrod às Ciências Ómicas
Doenças Hereditárias do Metabolismo: de Garrod às Ciências Ómicas Isabel Tavares de Almeida Lab. Met & Gen. FFULisboa XIII Curso Básico de Doenças Hereditárias do Metabolismo Coimbra, 5 a 7 Dezembro 2016
More informationNewborn Screen & Development Facts about the genetic diseases new since March 2006 (Excluding Cystic Fibrosis)
Newborn Screen & Development Facts about the genetic diseases new since March 2006 (Excluding Cystic Fibrosis) 1) Argininosuccinic acidemia (ASA) a) Incidence: ~1 in 70,000 b) Deficiency in an enzyme of
More informationClinical Approach to Diagnosis of Lysosomal Storage Diseases
Clinical Approach to Diagnosis of Lysosomal Storage Diseases M. Rohrbach, MD, PhD FMH Pädiatrie und FMH Medizinische Genetik Abteilung Stoffwechsel Universitätskinderklinik Zürich Lysosomal storage disorders
More informationNEWBORN SCREENING. in Massachusetts: Information for You and Your Baby. University of Massachusetts Medical School
University of Massachusetts Medical School NEWBORN SCREENING in Massachusetts: Information for You and Your Baby New England Newborn Screening Program Biotech 4, 2nd Floor UMass Medical School 377 Plantation
More information[R23-13-MET/HRG] STATE OF RHODE ISLAND AND PROVIDENCE PLANTATIONS DEPARTMENT OF HEALTH. February October October 1992 (E) September 1995
RULES AND REGULATIONS PERTAINING TO THE NEWBORN METABOLIC, ENDOCRINE, AND HEMOGLOBINOPATHY SCREENING PROGRAM AND THE NEWBORN HEARING LOSS SCREENING PROGRAM [R23-13-MET/HRG] STATE OF RHODE ISLAND AND PROVIDENCE
More informationInborn Errors of Metabolism (IEM)
Clinical Presentation Inborn Errors of Metabolism (IEM) Click on the following: - Clinical Pearl - link to movie clip - link to picture Investigations Blood Work Urine No Acidosis NH 4 + Metabolic Acidosis
More informationNeurodegenerative disorders: an approach to investigation. Robert Robinson Practical Paediatric Neurology Study Days April 2018
Neurodegenerative disorders: an approach to investigation Robert Robinson Practical Paediatric Neurology Study Days April 2018 Aims An approach to investigating and diagnosing young children with progressive
More informationMetabolic Disorders. Chapter Thomson - Wadsworth
Metabolic Disorders Chapter 28 1 Metabolic Disorders Inborn errors of metabolism group of diseases that affect a wide variety of metabolic processes; defective processing or transport of amino acids, fatty
More informationThe Israeli population carrier screening program. Joël Zlotogora MD, PhD Hadassah medical school Hebrew University Jerusalem
The Israeli population carrier screening program Joël Zlotogora MD, PhD Hadassah medical school Hebrew University Jerusalem The Israeli population 2015 8,134,500 inhabitants Jews (75.1%) Ashkenazi, non
More informationChildhood epilepsy: the biochemical epilepsies. Dr Colin D Ferrie Consultant Paediatric Neurologist Leeds General Infirmary
Childhood epilepsy: the biochemical epilepsies Dr Colin D Ferrie Consultant Paediatric Neurologist Leeds General Infirmary Definitions Epileptic Seizure Manifestation(s) of epileptic (excessive and/or
More informationNewborn Screening: Focus on Treatment
Newborn Screening: Focus on Treatment Alan R. Fleischman, M.D. Senior Vice President and Medical Director March of Dimes National Conference of State Legislatures July 21, 2008 Newborn Screening: A Public
More informationMETABOLISM OF AMINO ACIDS
Dr. M. Sasvari METABOLISM OF AMINO ACIDS 2. The fate of the carbon sceleton 3 N + C R Active C 1 intermediers The folate derivatives structure s Folate (F) - vitamin Folate, 2 F, 4 F Dihydrofolate ( 2
More informationConsiderations in Choosing Screening Conditions: One (US) Approach
22 Plenary Considerations in Choosing Screening Conditions: One (US) Approach Bradford L Therrell Jr, 1,2 MS, PhD Abstract The lack of a national policy on newborn screening (NBS) in the United States
More informationNewborn screening for congenital metabolic diseases Optional out-of-pocket tests Information Sheet
Newborn screening for congenital metabolic diseases Optional out-of-pocket tests Information Sheet Website:www.tipn.org.tw Telephone:(02)85962050 Ext. 401-403 Service line:(02)85962065 Fax:(02)85962067
More informationSYLLABUS FOR TRAINING IN CLINICAL PAEDIATRIC METABOLIC MEDICINE
SYLLABUS FOR TRAINING IN CLINICAL PAEDIATRIC METABOLIC MEDICINE Updated December 2014: Vassili Valayannopoulos and Andrew Morris Paediatrics is an independent medical specialty based on the knowledge and
More informationDysmorphology Guy Besley
Dysmorphology Guy Besley Willink Biochemical Genetics Unit, Manchester Children s s Hospital Dysmorphic presentation Congenital malformation Disorder of embryogenesis Intrauterine insult infection; chromosomal/genetic
More informationPositive Newborn Screens: What do you do next?
Positive Newborn Screens: What do you do next? James B. Gibson, MD, Ph.D. Biochemical Geneticist at Specially for Children Clinical Associate Professor of Pediatrics UTHSCSA Carla R. Scott, MD Pediatric
More informationMetabolic Disorders Screened Overseas but not Screened in Australia Condition Features Inherited Diagnosis Treatment Newborn Screen
Metabolic Disorders ed Overseas but not ed in Australia Biotinidase Deficiency Severe form causes seizures & delay Biotin can prevent complications NZ, USA Tyrosinaemia Type I Coma & death before age 10
More informationOverview of Newborn Screening, Potential Uses of Residual Dried Blood Spots, and Protection of Privacy
Overview of Newborn Screening, Potential Uses of Residual Dried Blood Spots, and Protection of Privacy Alan R. Fleischman, M.D. Senior Vice President and Medical Director Chair, Federal Advisory Committee,
More informationMedical Foods for Inborn Errors of Metabolism
Medical Foods for Inborn Errors of Metabolism Policy Number: Original Effective Date: MM.02.014 02/18/2000 Line(s) of Business: Current Effective Date: HMO; PPO; QUEST 08/23/2013 Section: Medicine Place(s)
More informationBy: Dr Hadi Mozafari 1
By: Dr Hadi Mozafari 1 Gluconeogenesis is the process of converting noncarbohydrate precursors to glucose or glycogen. The major substrates are the glucogenic amino acids, and lactate, glycerol, and propionate.
More informationCLINICAL SIGNS SUGGESTIVE OF A NEUROMETABOLIC DISEASE. Bwee Tien Poll-The Amsterdam UMC The Netherlands
CLINICAL SIGNS SUGGESTIVE OF A NEUROMETABOLIC DISEASE Bwee Tien Poll-The Amsterdam UMC The Netherlands FRAMEWORK OF PRINCIPALS 1. Problem-oriented clinical approach 2. Biomarkers in plasma, urine, CSF
More informationCarrierMap. Genetic Counseling. Technology TABLE OF. Sample Report CONTENTS. New Offerings. Recombine Facts. Disease List
Recombine 2 CarrierMap 4 Genetic Counseling TABLE OF CONTENTS 8 12 14 Technology Sample Report New Offerings 18 Recombine Facts 19 Disease List CARRIERMA ROVIDES COMLETE We help families have healthy children
More informationCSF Investigations in patients with seizures. Dr Simon Olpin Sheffield Children s Hospital
CSF Investigations in patients with seizures Dr Simon Olpin Sheffield Children s Hospital Background Epileptic seizures common feature in many inherited metabolic disorders particularly those involving
More informationForesight Carrier Screen
4915 25th Ave NE, Suite 204W Seattle, WA 98105 Phone: (206) 588-1484 Fax: (206) 466-4696 Sample Type: EDTA Blood Date of Collection: Date Received: 02/19/2018 Date Tested: 02/26/2018 Accession ID: CSL3P6DMJ324JJ4
More informationCARRIER SCREEN - LIST OF DISORDERS
1 11-Beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 2 17-Beta-Hydroxysteroid deyhdrogenase X deficiency 3 2-Methylbutytyrglycinuria 4 21-hydroxylase deficiency 5 3-Methylcrotonyl-CoA carboxylase
More informationinborn errors of metabolism biochemical basis
inborn errors of metabolism biochemical basis What is an inborn error of metabolism (IEM)? Genetically determined biochemical disorders, that affect an individual s ability to convert nutrients or to use
More informationA Guide for Prenatal Educators
A Guide for Prenatal Educators Why Teach Newborn Screening This booklet is designed to make it easy for you, a prenatal educator, to effectively inform expectant parents about newborn screening. All of
More informationEURORDIS Member Organisations - Diseases - ERN Groupings Working Document
EURORDIS Member Organisations - Diseases - ERN Groupings Working Document Diseases ERN Group - Primary ERN Group - secondary Achondroplasia Fibrodysplasia ossificans progressiva Fibrous dysplasia of bone
More informationTesting Strategy for Inborn Errors of Metabolism in the Neonate Aditi I. Dagli, Roberto T. Zori and Bryce A. Heese. DOI: /neo.
Testing Strategy for Inborn Errors of Metabolism in the Neonate Aditi I. Dagli, Roberto T. Zori and Bryce A. Heese Neoreviews 2008;9;e291 DOI: 10.1542/neo.9-7-e291 The online version of this article, along
More informationAntenatal diagnosis of inborn errors of metabolism
816 Archives ofdisease in Childhood 199 1; 66: 816-822 CURRENT PRACTICE Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Pendlebury Manchester M27 IHA M A Cleary J E Wraith Correspondence
More informationForesight Carrier Screen
321 Main Street San Francisco, CA 94080 Phone: (415) 555-5555 Fax: (415) 555-5555 FE Sample Type: OG-510 Saliva Date of Collection: 07/12/2017 Date Received: 07/17/2017 Date Tested: 07/17/2017 Indication:
More informationGUIDE TO NEWBORN SCREENING PROGRAMME
\ GUIDE TO NEWBORN SCREENING PROGRAMME 1 MEDILAB PROFILE MEDILAB, the leading independent provider of Clinical Laboratory Diagnostic Services in Cyprus, was established in 1980 by Mr. C. Pavlides and has
More informationNewborn bloodspot testing
Policy HUMAN GENETICS SOCIETY OF AUSTRALASIA ARBN. 076 130 937 (Incorporated Under the Associations Incorporation Act) The liability of members is limited RACP, 145 Macquarie Street, Sydney NSW 2000, Australia
More informationBIOTIN (BIOTINIDASE) DEFICIENCY Marc E. Tischler, PhD; University of Arizona
BIOTIN (BIOTINIDASE) DEFICIENCY Marc E. Tischler, PhD; University of Arizona BIOTIN (BIOTINIDASE) DEFICIENCY biotin in the body is recycled by its removal from carboxylase enzymes to which it is attached
More informationForesight Carrier Screen
321 Main Street San Francisco, CA 94080 Phone: (415) 555-5555 Fax: (415) 555-5555 FE Sample Type: OG-510 Saliva Date of Collection: 06/23/2017 Date Received: 06/28/2017 Date Tested: 06/28/2017 Indication:
More informationAmino acid metabolism I
Amino acid metabolism I Jana Novotná Department of the Medical Chemistry and Clinical Biochemistry The 2nd Faculty of Medicine, Charles Univ. Metabolic relationship of amino acids DIETARY PROTEINS GLYCOLYSIS
More informationUrea Cycle Disorders and Hyperammonemia: Diagnosable Treatable Screenable
Urea Cycle Disorders and Hyperammonemia: Diagnosable Treatable Screenable Marshall L. Summar, M.D. Chief, Division of Genetics and Metabolism Children s National Medical Center Washington, DC, USA Disclosure
More informationPoints 1. Following is the overall reaction catalyzed by the Calvin-Benson cycle:
BCH 4054 February 22, 2002 HOUR TEST 2 NAME_ Points 1. Following is the overall reaction catalyzed by the Calvin-Benson cycle: CO 2 + 3ATP + 2NADPH 1/3 glyceraldehyde-3-p + 3ADP + 2NADP + Give the structures
More informationOVERVIEW M ET AB OL IS M OF FR EE FA TT Y AC ID S
LIPOLYSIS LIPOLYSIS OVERVIEW CATABOLISM OF FREE FATTY ACIDS Nonesterified fatty acids Source:- (a) breakdown of TAG in adipose tissue (b) action of Lipoprotein lipase on plasma TAG Combined with Albumin
More informationTIMELINESS OF NEWBORN SCREENING: RECOMMENDATIONS FROM ADVISORY COMMITTEE ON HERITABLE DISORDERS IN NEWBORNS AND CHILDREN
TIMELINESS OF NEWBORN SCREENING: RECOMMENDATIONS FROM ADVISORY COMMITTEE ON HERITABLE DISORDERS IN NEWBORNS AND CHILDREN Susan Tanksley, PhD May 19, 2015 TIMELINESS - BACKGROUND In order to effectively
More informationNewborn Screening & Methods for Diagnosing Inborn Errors of Metabolism
Newborn Screening & Methods for Diagnosing Inborn Errors of Metabolism Patricia Jones, PhD DABCC FACB UT Southwestern Medical Center Children s Medical Center Dallas, Texas Learning Objectives Justify
More informationGenética e Hígado: Cómo contribuye la genética en el algoritmo diagnóstico de la enfermedad hepática pediátrica? Nicholas Ah Mew, MD
Genética e Hígado: Cómo contribuye la genética en el algoritmo diagnóstico de la enfermedad hepática pediátrica? Nicholas Ah Mew, MD April 24, 2017 SAP 2017 Buenos Aires Genetic disorders are rare why
More informationNeonatal Guidelines. Chapter 10: Metabolic V Date Revised : January 2017 Ratified 6 th February Date for Review: 1 st of March 2021
Neonatal Guidelines Chapter 10: Metabolic V2017.1 Specialty: Neonatal Medicine Revised by: Jean Matthes Date Revised : January 2017 Ratified 6 th February 2017 Approved by: ABMU Joint Perinatal Forum Date
More information(f) "Birthing center" means any facility that is licensed by the Georgia Department of Community Health as a birthing center;
Ga. Comp. R. & Regs. r. 511-5-5-.02 Definitions Rule 511-5-5-.02. Definitions (a) "Abnormal test result" is a test result from blood testing or physiologic monitoring that is outside the screening limits
More information7 Medical Genetics. Hemoglobinopathies. Hemoglobinopathies. Protein and Gene Structure. and Biochemical Genetics
SESSION 7 Medical Genetics Hemoglobinopathies and Biochemical Genetics J a v a d F a s a J a m s h i d i U n i v e r s i t y o f M e d i c a l S c i e n c e s, N o v e m b e r 2 0 1 7 Hemoglobinopathies
More informationTitle: Assessing Recommendations Related To Timeliness of Newborn Screening
Title: Assessing Recommendations Related To Timeliness of Newborn Screening Purpose: In January 2014, the Secretary s Discretionary Advisory Committee on Heritable Diseases on Newborns and Children (Committee)
More informationNewborn Screening: Blood Spot Disorders
Newborn Screening: Blood Spot Disorders Arizona s Newborn Screening Program Program Overview Panel of Disorders Disorder Descriptions Program Components Hospitals ADHS Lab ADHS Follow-up ADHS Billing Medical
More informationNutraHacker. Carrier and Drug Response Report for Customer: b2b0b618-db91-447c-9470-ff7b79ae147d. Instructions:
NutraHacker Carrier and Drug Response Report for Customer: b2b0b618-db91-447c-9470-ff7b79ae147d Instructions: In this report, NutraHacker examines single nucleotide polymorphisms that reveal carrier status
More informationSyllabus for Training in Inborn Errors of Metabolism for Scientists and Medically Qualified Laboratory Staff
Training Syllabus LABORATORY SYLLABUS Syllabus for Training in Inborn Errors of Metabolism for Scientists and Medically Qualified Laboratory Staff This syllabus is intended as a guide. Whilst the training
More informationAmino Acid Catabolism
Amino Acid atabolism 3-1 Lec #8 To date we have considered the catabolism of carbohydrates and lipids with the object of generating energy in the form of ATP. Both give rise to AcoA which is fed through
More informationNewborn Screening in Manitoba. Information for Health Care Providers
Newborn Screening in Manitoba Information for Health Care Providers Newborn screening: a healthy start leads to a healthier life Health care professionals have provided newborn screening for phenylketonuria
More informationSubject: Enteral Formulas
09-J0000-61 Original Effective Date: 07/15/02 Reviewed: 04/26/18 Revised: 11/15/18 Subject: Enteral Formulas THIS MEDICAL COVERAGE GUIDELINE IS NOT AN AUTHORIZATION, CERTIFICATION, EXPLANATION OF BENEFITS,
More informationBest Practice Guidelines for the Biochemical Investigation of Patients with Foetal and Neonatal Hydrops
National Metabolic Biochemistry Network Best Practice Guidelines for the Biochemical Investigation of Patients with Foetal and Neonatal Hydrops INTRODUCTION Hydrops is defined as the presence of skin oedema
More informationNon-Lysosomal Glycogen Storage Disorders Biochemical Diagnosis
Non-Lysosomal Glycogen Storage Disorders Biochemical Diagnosis Katie Bainbridge Enzyme Laboratory Great Ormond Street Hospital Glycogen Metabolism Glycogen Glycogen -glucosidase Lysosome Brancher Glycogen
More informationUtility of Microarrays in Molecular Genetics
Utility of Microarrays in Molecular Genetics Madhuri Hegde, Ph.D., FACMG Associate Professor Senior Director Department of Human Genetics Emory Genetics Laboratory Emory University School of Medicine Atlanta,
More informationSuspected Metabolic Disease in the Newborn Period Acute Management "What do I do?" Barbara Marriage, PhD RD Abbott Nutrition
Suspected Metabolic Disease in the Newborn Period Acute Management "What do I do?" Barbara Marriage, PhD RD Abbott Nutrition Introduction Review clinical findings that may be suspicious of a metabolic
More informationBULGARIAN NATIONAL PLAN. Associate professor Alexey Savov PhD National Consulting Council for Rare Diseases (NCCRD)
BULGARIAN NATIONAL PLAN FOR RARE DISEASES 2009 2013 Associate professor Alexey Savov PhD National Consulting Council for Rare Diseases (NCCRD) Strategy for rare diseases in Bulgaria Project of National
More informationTECHNICAL INFORMATION GUIDE
TECHNICAL INFORMATION GUIDE INHERITED METABOLIC DISORDERS TEST www.metabolon.com TEST SUMMARY Metabolomic profiling is a large-scale, semi-quantitative technology that provides a highly efficient small-molecule
More informationInborn Errors of Metabolism. Metabolic Pathway. Digestion and Fasting. How is Expanded Newborn Screening Different? MS/MS. The body is a factory.
Inborn Errors of Metabolism The body is a factory. Inborn errors of metabolism are rare genetic disorders in which the body cannot properly turn food into energy. The disorders are usually caused by defects
More informationdevact TM Clinical Management Panel for Neurodevelopmental Disorders
Amino acid disorder AMT Glycine encephalopathy (non-ketotic hyperglycinemia) Amino acid disorder GCSH Glycine encephalopathy (non-ketotic hyperglycinemia) Amino acid disorder GLDC Glycine encephalopathy
More informationStructure. Lysosomes are membrane-enclosed organelles. Hydrolytic enzymes. Variable in size & shape need
Lysosomes Structure Lysosomes are membrane-enclosed organelles Hydrolytic enzymes Variable in size & shape need Degrade material taken up from outside and inside the cell Variable in size and shape Lysosomal
More informationCatabolism of Carbon skeletons of Amino acids. Amino acid metabolism
Catabolism of Carbon skeletons of Amino acids Amino acid metabolism Carbon skeleton Carbon Skeleton a carbon skeleton is the internal structure of organic molecules. Carbon Arrangements The arrangement
More informationBIOCHEMICAL GENETICS UNIT METABOLIC ASSAYS
BIOCHEMICAL GENETICS UNIT METABOLIC ASSAYS USERS HANDBOOK Version 5.0 PLEASE DO NOT USE AFTER JUNE 2011 BGU Handbook version 5.0 June 2010 1 CONTENTS CONTENTS 2 1 CONTACT DETAILS AND ENQUIRIES 3 2 GENERAL
More informationInborn errors of metabolism causing epilepsy
DEVELOPMENTAL MEDICINE & CHILD NEUROLOGY REVIEW Inborn errors of metabolism causing epilepsy SHAMIMA RAHMAN EMMA J FOOTITT SOPHIA VARADKAR PETER T CLAYTON Clinical and Molecular Genetics and Neurosciences
More informationnumber Done by Corrected by Doctor Nayef Karadsheh
number 13 Done by Asma Karameh Corrected by Saad hayek Doctor Nayef Karadsheh Gluconeogenesis This lecture covers gluconeogenesis with aspects of: 1) Introduction to glucose distribution through tissues.
More informationUSERS HANDBOOK Version 4.0
USERS HANDBOOK Version 4.0 BIOCHEMICAL GENETICS UNIT ADDENBROOKE S HOSPITAL CAMBRIDGE PLEASE DO NOT USE AFTER JUNE 2010 CONTENTS CONTENTS 2 1 CONTACT DETAILS AND ENQUIRIES 4 2 GENERAL INFORMATION 5 3 SPECIMEN
More informationAcylcarnitines And Inherited Metabolic Disease. David Hardy
Acylcarnitines And Inherited Metabolic Disease David Hardy Overview Free Carnitine and Acylcarnitines Role in fatty acid oxidation Appearance in disease Measurement by tandem MS Examples of use in diagnosis
More informationForesight Carrier Screen
4915 25th Ave NE, Suite 204W Seattle, WA 98105 Phone: (206) 588-1484 Fax: (206) 466-4696 Sample Type: EDTA Blood Date of Collection: 09/20/2017 Date Received: 09/22/2017 Date Tested: 09/27/2017 Indication:
More information