Inborn Errors of Metabolism Clinical Approach to Diagnosis and Treatment
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1 Case Scenario: 15 year old girl presented in ED with aggressive behaviour and hallucinations. No associated fever, vomiting, seizures or developmental concerns Previously well
2 Inborn Errors of Metabolism Clinical Approach to Diagnosis and Treatment Joy Lee, M.D., FRACP
3 Acknowledgement Asso. Prof. Avihu Boneh for the slides he shared
4 Misconceptions on Inborn Errors of Metabolism IEMs are very RARE. These disorders are difficult to DIAGNOSE and to TREAT.
5 STRESS TEST...
6 Outline Part I Overview of IEM When to suspect IEM? What investigations to request? What is expanded newborn screening? Part II What are the treatment principles?
7 Overview of IEM
8 Incidence - Prevalence Individually very rare Collectively ~1; 5000
9 Patterns of Inheritance MENDELIAN ~60% autosomal recessive ~20% autosomal dominant ~15% X-linked COMPLEX NON- MENDELIAN ~5% mitochondrial (Scriver, et al. 2001)
10 Classification According to intracellular site ex. mitochondrial disorders, peroxisomal disorders lysosomal storage disorders According to biochemical pathology ex. disorders in intermediary metabolism disorders of neurotransmitter metabolism disorders of purines/pyrimidines
11 Disorders of Intermediary Metabolism Defects in Carbohydrate Metabolism ex. Galactosaemia, GSD, HFI Defects in Protein Metabolism ex. Amino Acidopathies (MSUD) Organic Acidurias (MMA, PA, IVA, GAI) Urea Cycle defects Defects in Fatty Acid and Ketone Metabolism ex. Fatty Acid Oxidation Defects Defects in Energy Metabolism ex. PDH deficiency mitochondrial respiratory chain disorders
12 General Metabolic Concept Enzyme + Co-factor A B C D
13 3 Sources of Diagnostic Confusion Confusion with common acquired conditions ex. sepsis Confusion caused by association with intercurrent illness Confusion arising from genetic heterogeneity ex. MPS Clarke, A Clinical Guide to Inherited Metabolic diseases 3 rd edition
14 MPS I - Spectrum
15 Disease progression: severe MPS I 10 months 12 months 39 months 22 months 34 months Photos courtesy of US MPS Society Muenzer J. The mucopolysaccharidoses: A heterogeneous group of disorders with variable pediatric presentations. J Peds S27 S34.
16 When to suspect IEM?
17 1) Good history taking 2) Physical examination including review of systems
18 History Pregnancy and Birth: HELLP syndrome, maternal diet, foetal movements, prolonged jaundice Family: Ethnic origin, consanguinity, unexplained deaths/miscarriages (? sex), SIDS, unexplained MR in sibling/close relative, other affected sibs Present and Past: Recurrent unexplained symptoms ex. vomiting, respiratory and ear infections, progressive CNS degeneration, MR in absence of major congenital anomalies, recurrent surgeries, surgical procedures (recovery from Anaesthesia)
19 History Dietary: aversion to certain food such as protein vegetarian diet craving for certain food
20 Clinical Presentation of IEM Variable age of onset and clinical symptoms Neurologic a) acute encephalopathy b) chronic encephalopathy psychomotor retardation, regression, seizures, movement disorders, stroke, ataxia, psychiatric, myopathy
21 Hoffman et al Inherited Metabolic Diseases A Clinical Approach
22 Clinical Presentation of IEM Variable age of onset and clinical symptoms Neurologic a) acute encephalopathy b) chronic encephalopathy psychomotor retardation, regression, seizures, movement disorders, stroke, ataxia, psychiatric, myopathy
23 Clinical Symptoms of IEM Acute encephalopathy Vomiting (recurrent) Feeding refusal breathing problems Lethargy / irritability Floppiness /dystonia/weakness/ataxia Seizures in relation to age, precipitating factors
24 Clarke, A Clinical Guide to Inherited Metabolic diseases 3 rd edition
25 Disorders of Intermediary Metabolism Defects in Carbohydrate Metabolism ex. Galactosaemia, GSD, HFI Defects in Protein Metabolism ex. Amino Acidopathies (MSUD) Organic Acidurias (MMA, PA, IVA, GAI) Urea Cycle defects Defects in Fatty Acid and Ketone Metabolism ex. Fatty Acid Oxidation Defects Defects in Energy Metabolism ex. PDH deficiency mitochondrial respiratory chain disorders
26 Precipitating Factors Feeding / fasting Dietary overload (e.g. protein) Dietary deficiency (e.g. vit. B6, B12, carnitine) Intercurrent infection / fever Surgery Exercise Specific toxins (e.g. valproic acid)
27 Clinical Presentation of IEM Neurologic chronic encephalopathy, movement disorder, diurnal pattern, ataxia, muscle pain, abnormal tone Hepatic jaundice, liver failure, hypoglycaemia Cardiac cardiomyopathy, rhythm disturbances Respiratory sleep apnoea, recurrent chest infections Renal tubular dysfunction, renal stones Eye cataracts, optic atrophy, retinal abnormalities Dermatological alopecia, rash, kinky hair, Ears recurrent infections, hearing loss Gastrointestinal chronic diarrhoea Growth - failure to thrive Dysmorphism
28 IEM and Dysmorphism Disorders of cholesterol biosynthesis - SLO Peroxisomal disorders Mitochondrial disorders Lysosomal disorders (ex. MPS) CDG syndromes Glutaric aciduria type II
29 Atlas of Inherited metabolic diseases 3 rd edition
30 Clinical Clues Some characteristics of psychomotor retardation that should alert clinicians. 1) It tends to be global affecting all spheres of development to some extent. 2) Severe irritability, impulsitivity/aggressiveness, hyperactivity and nocturnal restlessness are more common among patients with MR caused by IEM than non-metabolic. Clarke, A Clinical Guide to Inherited Metabolic diseases 3 rd edition
31 Clinical Clues Some characteristics of psychomotor retardation that should alert clinicians. 3) Psychomotor retardation is usually progressive gap wider with time when compared with other children. 4) Psychomotor retardation is usually asso. with other objective evidence of neurologic dysfunction abnormal tone, impairment of senses, seizures, pyramidal tract signs, cranial nerve deficits. Clarke, A Clinical Guide to Inherited Metabolic diseases 3 rd edition
32 Clinical Clues: Physical Examination Multisystem involvement: review of systems is important! Pattern of abnormalities typical of certain disorders ex. Kinky hair, laxity of joints/skin, developmental delay Pattern and degree of involvement of other organs and tissues ex. Coarse features, hepatosplenomegaly, joint contractures, umbilical hernias, obstructive sleep apnoea Unusual smell ex. fishy odour, sweaty feet
33 Nyhan et al Atlas of Inherited Metabolic Diseases 3 rd ed
34 Nyhan et al Atlas of Inherited Metabolic Diseases 3 rd ed
35 Nyhan et al Atlas of Inherited Metabolic Diseases 3 rd ed
36 Nyhan et al Atlas of Inherited Metabolic Diseases 3 rd ed
37 Nyhan et al Atlas of Inherited Metabolic Diseases 3 rd ed
38 Nyhan et al Atlas of Inherited Metabolic Diseases 3 rd ed
39 Nyhan et al Atlas of Inherited Metabolic Diseases 3 rd ed
40 What investigations to request?
41 Laboratory Tests (1) Acid-Base / Electrolytes Glucose Lactate Ammonia Urine ketones Calculate for Anion Gap normal < 16
42 Results in 30 minutes or less!
43 Questions you should ask yourself Is there Metabolic Acidosis? Is there Hypoglycaemia? Is there Ketosis? Is there Hyperammonaemia?
44 Clarke, A Clinical Guide to Inherited Metabolic diseases, 3 rd edition
45 Table 3: Interpretation of Results 1 Metabolic Condition Glucose Lactate Metabolic Acidosis Ammonia Anion Gap 3 Urine ketones Mitochondrial disorder N usually very high present N increase negative MSUD low or N N variably present N may be increase strongly +++ OA low or N may be high very acidotic may be high usually increase positive FAOD low or N may be high variably present may be high may be increase neg or low 2 UCD N N N high N negative 1 Serves as a guide. Secondary factors (dehydration/poor perfusion/sepsis) can affect interpretation. 2 Inappropriately low 3 Compute by using Na - (Chloride + Bicarbonate). Normal < 16 mmol/l N - normal
46 Laboratory Tests Blood (2) Biochemical Plasma amino acids Guthrie card amino acids/acylcarnitine profile Plasma carnitine Ketones, free fatty acids Pyruvate needs special tube Ancillary: Full blood count ex. Neutropenia, pancytopenia LFT, coagulation screen, alpha feto protein Lipid profile, uric acid Creatine kinase
47 Blood Spots on Guthrie Card for a rapid analysis of : acylcarnitines amino acids DNA extraction for mutation analysis Dry in room air; store/send in a paper envelope
48 Laboratory Tests: Urine Smell ph Glucose Ketones Protein Reducing Substances (Clinitest, Clinistix)
49 Laboratory Tests: Urine Amino Acids Organic Acids GAGs Others: Sulphocysteine, Purines and Pyrimidines, Bile acids, P6C Store and freeze extra urine for further analysis
50 Laboratory Tests - CSF Glucose Protein Lactate Pyruvate Amino Acids Neurotransmitters special tubes *Paired: Blood/CSF glucose, lactate, pyruvate and amino acids* Store and freeze extra sample for further analysis
51 Sample Handling/Collection Blood ammonia free flowing, in ice, send to lab ASAP lactate free flowing, no tourniquet Do not freeze whole blood. Separate plasma/serum and freeze at -20 C or -70 C Urine: Freeze at -20 C or -70 C CSF: A bloody sample is not informative If only a few RBC: spin and freeze at -20 C or -70 C.
52 Post-Mortem Samples Collect and freeze plasma, urine and CSF Blood spots on Guthrie Card Skin biopsy: put in culture medium or sterile Normal Saline; store at 4 C Biopsies: Liver, heart and heart Guidelines on PM samples on RCH website PM kit available in core lab with instructions
53 How NOT to order metabolic testing
54 Expanded Newborn Screening
55 Current Australian newborn screening panels Congenital hypothyroidism enzyme linked immunosorbent assay (commercial kit) Cystic fibrosis ELISA or FIA (commercial kit) followed by mutation testing Phenylketonuria + 22 other inborn errors of metabolism Tandem mass spectrometry (single test --- multiple disorders) Galactosaemia (not in Vic)
56 Collection of Guthrie card at 48 to 72 hours of age Testing is voluntary with consent >99.5% of babies have the test Program is funded by the Victorian government ~ 74,000 Vic babies tested per year (2011) ~ 77,400 babies in 2012
57 Sorting the cards Punching out Microtitre plate Adding reagents Tandem mass spectrometry test Hypothyroidism ELISA tes
58
59 Amino acids Amino acid Metabolic Possibilities Phe PKU, hyperphe, BH4 metabolism defect Valine, xleu Classic MSUD Glycine NKH Methionine Homocystinuria, MAT deficiency ASA Argininosuccinic aciduria Citrulline Citrillunemia I or II Tyrosine Tyrosinemia I, Tyrosinemia II or III
60 Acylcarnitines Acylcarnitine Metabolic Possibilities Free carnitine(c0) Carnitine uptake defect Propionylcarnitine(C3) MMA, PA, cobalamin defect, B12 def. Octanoylcarnitine(C8) MCAD deficiency Glutarylcarnitine(C5DC) GAI Tetra-decanoylcarnitine(C14) VLCAD deficiency 3-hydroxy-isovalerylcarnitine (0HC5) holocarboxylase def., MCCC def.
61 GUANIDINOACETIC OH PROLINE D5 PHE (INT STD) GLY ALA VAL ISOLEU_LEU_OHPRO ORN LYS_GLN MET PHE GLYCYL-PROLINE ARG CITRULLINE TYR HOMOCITRULLINE ARGININOSUCCINIC C8 CARN (INT STD) D9FC_UNDERIV FREE CARN C2 CARN C3 CARN C4 CARN C5:1 CARN C5 CARN OH C4 CARN C6 CARN OH C5 CARN C8 CARN C3 DC CARN C10 CARN C5 DC CARN C12 CARN_C6:1 DC C6 DC CARN OH C5 DC CARN C14:1 CARN C14 CARN C16 CARN OHC16 CARN C18 CARN OH C18:1 CARN C0/(C16+C18) Normal newborn profile = LOW (undetected with lower cutoff>0) <-1 = LOW (divisors of lower cutoff) -1 to 0 = NORMAL (between lower cutoff and median) 0 to 1 = NORMAL (between median and cutoff) >1 = HIGH (multiples of cutoff) Select sample: D:\Newborn\Mar2004\02.PRO\Data\A27247-AA-1-5
62 Newborn screening MSMS panel example (a) Amino acids acyl carnitines ratios C8 and C6 carnitine, supported by C8/C10 ratio Almost diagnostic for medium chain acyl CoA dehydrogenase deficiency
63 What conditions are detected by tandem mass spectrometry? Group A: potentially or often serious, well detected PKU, homocystinuria, tyrosinemia II Citrullinemia type I, argininosuccinic aciduria, classic MSUD methylmalonic acidaemias, isovaleric acidaemia, propionic acidemia GAI, multiple carboxylase def. medium-chain acyl CoA dehydrogenase (MCADD), LCHAD, CPT I or II Carnitine transport defect Group B: less serious 3-methylcrotonyl CoA carboxylase 2-methylbutyryl CoA dehydrogenase Short-chain acyl CoA dehydrogenase
64 What conditions are detected by tandem mass spectrometry? Group C: potentially or often serious, poorly detected Tyrosinaemia type 1, Citrullinemia II OTC deficiency, argininaemia Glycine encephalopathy, cobalamin C def. Group D: maternal disorders vitamin B12 deficiency 3-methylcrotonyl CoA carboxylase deficiency Carnitine uptake defect
65 Finally Think Metabolic Do the basics Call for assistance
66
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