Diagnosis of IEM. And Emergency Management
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1 Diagnosis of IEM And Emergency Management Susan Sklower Brooks, M.D., F.A.C.M.G. Professor of Pediatrics Professor of Obstetrics, Gynecology and Reproductive Sciences Robert Wood Johnson Medical School
2 What do they have in common? A full term 4 day old? A 2 year old from Pakistan? An 8 year old at summer camp? An 18 year old college student?
3 What Do They Have In Common? 1. An infectious disease? 2. A congenital heart disease? 3. An inborn error of metabolism? 4. Who cares? 100% 0% 0% 0% An infectious disease? A congenital heart di... An inborn error of me... Who cares?
4 The 2 year old child became unresponsive Case Report while traveling with her parents on the New Jersey Turnpike.
5 Summer Camp Escapade The 8 year old went to sleep-away camp for the first time. After several days she became increasing lethargic and was brought to a local ED. On arrival she was barely arousable.
6 College Binge? The 18 year old college student was brought to the ED unresponsive. She had been at a prefinal party with friends where alcohol was served.
7 What is the likely diagnosis? 1. Inborn Error of Metabolism? 2. Still not sure? 3. Who cares? 94% 6% 0% Inborn Error of Meta... Still not sure? Who cares?
8 Inborn Errors of Metabolism Amino acid disorders Organic acidemias Urea cycle disorders Carbohydrate metabolism disorders Mitochondrial disorders Mitochondrial fatty acid oxidation disorders Peroxisomal disorders Lysosomal storage disorders Purine and pyrimidine disorders Porphyrias Metal metabolism disorders
9 Major Presentation Categories for Inborn Errors of Metabolism Intoxication Energy Metabolism Complex Molecules Saudubray, JM et al, Semin Neonatol 2002: 7:3-15
10 Intoxication Symptom free interval- vomiting, lethargy coma, liver failure, etc Often treatable with diet or cofactor Small molecule disease amino acids, organic acids, fatty acid
11 Disorders of Energy Metabolism Hypoglycemia, failure to thrive, lactic acidemia, hypotonia, myopathy, SIDS Mitochondrial Disorders
12 Complex Molecules Permanent and progressive symptoms Lysosomal, peroxisomal For Some Enzyme Replacement Therapies
13 Amino/Organic Acid Disorders Disorders of Intermediary Metabolism Failure in breakdown pathways of amino acids Amino acid Amine (NH2) = Organic Acid Examples of Amino acid disorders PKU, Homocystinemia, Tyrosinemia Examples of Organic acid disorders Methylmalonic acidemia, propionic acidemia
14 Amino Disorder Presentation Generally non-acute Various symptoms dependent on disorder Homocystinuria thrombosis Tyrosinemia liver disease PKU hypopigmentation, seizures, intellectual disability
15 Organic Acidemias Organic acids = Amino Acids with the Amine group (NH2) removed PRESENTATION: Neonatal to Adult onset Neonatal presentation: Uncomplicated pregnancy Hypo or hypertonia Feeding problems Seizures Lethargy Unusual odors Metabolic encephalopathy Cerebral edema, coma, Multi-organ failure and death Lab Findings Hypoglycemia Metabolic acidosis Hyperammonemia Ketosis
16 Urea Cycle Disorders Primary functions of Urea cycle: elimination of waste nitrogen as urea to avoid accumulation of toxic nitrogen compounds synthesis of arginine
17 Urea Cycle Disorders Neonatal Onset Lethargy by 48-72hrs Vomiting Hypothermia Tachypnea and apnea Seizures Cerebral edema Metabolic alkalosis Death
18 Urea Cycle Disorders - Late Onset 1 yr through adulthood Hyperammonemic episodes confusion coma Associated with change in diet, illness (infection), surgery
19 Fatty Acid Oxidation Disorders Fatty acid transport and mitochondrial oxidation plays major role in energy production times of fasting and metabolic stress
20 Presentation of FAOD Cardiomyopathy Myopathy Encephalopathy Sudden death Hypoketotic hypoglycemia Elevated transaminases Elevated uric acid Elevated CK
21 Full Term 4 Day Old A 4-day-old male is brought to an ER by his parents because of poor feeding Mother reports decreased feeding beginning on DOL # 3 2 episodes of vomiting on DOL # 3 On DOL # 4, pt was less active, and went 6 hours without feeding or voiding
22 Birth History Mother GBS+, all other labs negative Mother adequately treated with 2 doses of antibiotics ROM = 12 hours, no maternal fever NSVD at 37 weeks gestation BW = 2.3 kg Discharged from nursery on DOL # 2 Newborn screen sent on DOL # 2 Formula feeding Q3 hours upon discharge
23 Physical Exam Weight 2.0 kg (down 14% from BW) Length and HC: 50 th percentile Temp=92 o, BP=56/28, HR=120, RR=36 Hypoactive infant with poor interaction AF sunken and dry mucous membranes Normal facies
24 Clinical Course Patient became less responsive and developed worsening respiratory distress Progressed to cardio-pulmonary arrest Resuscitated, and maintained on mechanical ventilation and vasoactive medications Developed seizure activity and was maintained on anticonvulsants
25 What are you thinking? 1. Sepsis 2. Cardiac 91% 3. Metabolic 4. Inexperienced parent 9% 0% 0% Sepsis Cardiac Metabolic Inexperienced parent
26 What laboratory studies should you order? 1. Blood Gas 2. CBC 3. Ammonia 4. Electrolytes 5. LFTs 6. UA 7. Lactic acid 8. All of the above Blood Gas 0% 0% 0% CBC Ammonia Electrolytes 0% LFTs 0% 0% UA Lactic acid 0% All of the above 100%
27 (Ca 2+ ) < (Gluc) ph 7.13 pco 2 11 HCO 3 <5 po Lactate 0.8 Ammonia = >1190 UA: 5.5 / / 2+ Ketones and Protein TP 5.6 AP 108 Alb 3.1 AST 50 TB 12.4 ALT 36
28 What do we know Neonate in coma Hypoglycemia Severe metabolic acidosis Hyperammonemia Ketonuria
29 Algorithm for the Diagnosis of the Neonate in Coma Modified from Hoffmann et al, Inherited Metabolic Diseases, 2002 Blood: NH 3, ph, Electrolytes, Urine: Ketones NH 3 No Acidosis NH 3 +/- Acidosis + Ketones ++ Anion gap NH 3 normal No Acidosis Urea cycle defect HHH syndrome Transient hyperammonemia of the newborn Amino Acids Organic acidemia (propionic, isovaleric, etc Organic Acids Amino acidemia Organic acidemia Organic Acids Amino Acids
30 Treatment Airway Correct dehydration and acidosis Prevent catabolism by providing calories (glucose at least 6 mg/kg/min; insulin if needed; intralipids) Stop potential toxins (Protein) Remove toxins (dialysis, activation of alternative pathways) Therapeutic cocktail (B12, folate, biotin, carnitine) Obtain urine and plasma for diagnostic tests Check newborn screen results Ogier de Baulny, H. Semin Neonatol 2002:7:17-26
31 Fatty acid oxidation d... Amino acidemia Organic acidemia Mitochondrial Urea cycle defect Diagnosis? 1. Fatty acid oxidation disorder 2. Amino acidemia 3. Organic acidemia 4. Mitochondrial 5. Urea cycle defect 83% 4% 8% 4% 0%
32 Further Studies Help Make the Specific Diagnosis NBS contacted increased C3 on screen C3 elevation MMA, PA, Multiple CoA Carboxylase Def Acylcarnitine profile confirmed elevated C3- carnitine Urine studies showed high levels of the following organic acids in his urine: Methylcitrate which is formed from conjugation of propionyl-coa with oxaloacetate Propionylglycine, which results from conjugation of propionyl-coa with glycine Tiglylglycine, which results from incomplete isoleucine catabolism
33 Diagnosis: NBS reported elevated C3 Differential: Propionic vs Methylmalonic acidemia FINAL DIAGNOSIS: Propionic Acidemia Long term treatment: restrict propiogenic amines (methionine, valine, isoleucine,threonine) by special diet; antibiotics to decrease gut bacteria
34 Case Report A 2 year old child became unresponsive while traveling with her parents on the New Jersey Turnpike.
35 Initial treatment EMS was called and took the child to the nearest emergency room where she was in coma and found to have ph of 6.9. She was given IV hydration and bicarbonate and transferred to the BMSCH
36 History Mother and children flew into JFK on day of admission from Pakistan (18 hr flight). On the flight baby was given milk and juice. On arrival she was noted to be lethargic but family thought it was from the long travel.
37 Additional History Past Medical History: Born in Pakistan Hospitalizations: DOL 8 - persistent vomiting 5 months - acidosis, apnea, bradycardia. Intubated and treated with electrolyte solutions. When discharged parents told to give her ½ strength Good Start formula, no meat, no eggs or dairy. Development: walking and talking Family Hx: Parents 1st cousins
38 Exam Patient sedated and intubated Normal facies No liver or spleen enlargement No skin lesions
39 Initial labs on Arrival ph 6.997pCO2 5.0 po2 59 HCO3 1.2 Na 146 Cl 112 HCO3 10 CA 8.9 K 4.5 BUN 17 Glu 227 Urine Ketones 2+ NH4 37 AST 32 ALT 17 Lactate 1.9 Anion Gap = Na+ - (Cl-+HCO3) Normal =10 +/ (112+10) = 24
40 What do we know Acute episodic decompensation Prolonged air flight poor feeding, dehydration, high protein, lactose+ feed Parental consanguinity Severe metabolic acidosis Raised anion gap, ketone + Normal ammonia, lactate, LFT, glucose
41 Treatment Airway Correct dehydration and acidosis always D10 or higher Prevent catabolism by providing calories Stop potential toxins (Protein) Remove toxins (consider dialysis, activation of alternative pathways) Therapeutic cocktail (B12, folate, biotin, carnitine) Obtain urine and plasma for diagnostic tests
42 Prolonged Hospital Course Respiratory support - intubation Hypotension requiring vasopressin Seizure-like activity CT scan large basal ganglia hypodensities, mildly enlarged ventricles
43 Diagnosis Amino acids essentially normal Organic Acids urine MMA very high DX: METHYLMALONIC ACIDURIA Later testing showed: CblA B12 responsive mutation 433C>T (R145X) homozygote a common mutation in the MMA gene
44 Propionic and Methylmalonic Acidemia Thymine uracil valine isoleucine methionine threonine cholesterol odd chain fatty acids ADENOSYL BIOTIN COBALAMIN (B12) Propionyl-CoA D-CH 3 malonyl-coa L-CH 3 malonyl-coa Succinyl CoA Propionyl CoA Carboxylase Methylmalonyl CoA racemase Methylmalonyl CoA mutase PROPIONIC ACID METHYLMALONIC ACID
45 Methylmalonic Acidemia B12 Responsive Cobalamin Defects Cbl A, B, H - faulty cobalamin synthesis Cbl C, D, - cobalamine impaired methyl and adenosylcobalamin production CblF impaired transport B12 Unresponsive Mutase defects Mut0 no mutase activity Mut+- some mutase activity
46 A Case of CblC MMA/HCYs Before treatment: Neonatal Coma requiring ventilator support With treatment No metabolic crisis Gaining milestones
47 Metabolic Acidosis from IEM Metabolic Acidosis Glycogen Storage Disease, Gluconeogenesis defect Yes Hypoglycemia? No Normal Pyruvate Dehydrogenase, Pyruvate Carboxylase Anion Gap >16 Yes +Ketones Yes Amino & Organic Acids Normal Lactate/Pyruvate No No Abnormal Elevated +Hyperchloremia : GI losses, RTA, galactosemia, +Hypoglycemia, Fatty acid oxidation defect Amino Aciduria Organic Aciduria Mitochondrial Energy Defect Chart adapted from Dr. S. Lowe
48 When Should You Consider An IEM? Newborn period Acute neurological decline Lethargy Decreased feeding Vomiting, diarrhea, dehydration Seizures Acidosis (especially if elevated anion gap) Tachypnea Hypo (or hyper) glycemia Hyperammonemia
49 Neonate s response to severe illness Respiratory distress Hypotonia Poor suck Vomiting/diarrhea Lethargy/Coma
50 Work-up of sick neonate CXR CSF Cultures Head ultrasound If the above are normal, in an infant who was initially well and then deteriorated,. THINK INBORN ERROR OF METABOLISM
51 Further Presentations Up to the seventh decade of life Recurrent syndromes Stupor, lethargy Emesis; often with dehydration Failure to thrive, poor feeding Unusual odors Sweet (MSUD), sweaty feet, barn-like Dystonia, choreoathetosis, myoclonus,hypotonia, unexplained seizures Hepatosplenomegaly MR or CP without a clear etiology
52 Less than 1:20000 How Common Are IEM? 1. More common than childhood leukemia 2. Rare as hen s teeth 3. Less than 1:10, Less than 1:20,000 20% 4% 32% 44% More common than ch... Rare as hen s teeth Less than 1:10,000
53 How Common and Why? Individually rare but collectively numerous: 1:2500 newborns Genetics Most autosomal recessive Few X-linked Pathogenesis Enzyme deficiencies Cofactor binding problems with transport, absorption, enzyme action
54 Incidence of Childhood Disorders vs. Inborn Errors of Metabolism Disease Incidence IEM Incidence Meningitis 1:3,700 Intermediary 1:4,000 Metabolism Leukemia 1:10,000 PKU 1:10,000 Retinoblastoma 1:20,000 MMA 1:20,000 JRA 1:40,000 Galactosemia 1:35,000 CNS Tumor 1:42,000 Urea Cycle Defects 1:70,000 Chronic Renal Failure 1:100,000 MSUD 1:100,000
55 History and Physical Findings Suggestive of IEM History Aversion to specific foods Untoward reaction to childhood illnesses Psychomotor retardation Growth failure Pertinent family historyconsanguinity Early neonatal deaths Physical Findings Rapid breathing Exfoliative dermatitis Seizures and/or coma often with hypotonia Unusual odor Hepatomegaly Cataracts Microcephaly
56 ED Presentation Review of 53 pediatric patients who presented to the ED and ultimately were diagnosed with IEM 85% presented with neurological signs 58% presented with GI complaints 51% presented with both neuro and GI Diagnostic approach to inborn errors of metabolism in an emergency unit.pediatric Emergency Care. 16(6): , December 2000.CALVO, M. MD, PhD; ARTUCH, R. MD, PhD; MACIA, E. MD; LUACES, C. MD, PhD; VILASECA, M. A. PhD; POU, J. MD, PhD; PINEDA, M. MD, PhD
57 Keep Your Index of Suspicion High for IEM Obtain labs during acute episode CBC with differential and platelets Chemistries (lytes, ABG, Mg, Ca, LFT, Glucose, ammonia, lactate, U/A with Ketones) Metabolic labs (amino acids plasma, urine, CSF?, plasma acylcarnitine, urine organic acids, urine acylglycine, urine orotic acid Freeze urine and plasma for further studies
58 Summer Camp Escapade An 8 year old went to sleep-away camp for the first time. After several days she became increasing lethargic and was brought to a local ED. On arrival she was barely arousable. She was afebrile, with normal vital signs. The physical examination was unremarkable. Laboratory studies were normal with the exception of ammonia which was 350. Transferred to tertiary pediatric center
59 Urea Cycle Defect Reye Syndrome Suspected Diagnosis? 1. Tick-borne encephalitis 2. New onset seizure disorder 3. Reye Syndrome 4. Urea Cycle Defect 0% 0% 0% 100% Tick-borne encephalitis New onset seizure di...
60 Past Medical History Recurrent episodes of vomiting as toddler Soft neurological findings and learning disability Hospitalized in infancy twice with gastroenteritis and dehydration. Took longer than usual to recover Learning disability Picky eater likes sweets and pasta, dislikes milk and meat Ate more at camp due to policy of eat all foods on your plate and ask for more of what you like
61 Does this change your diagnosis? What other labs would you like to see? 1. Amino acids 2. Organic Acids 3. Ketones 4. Acylcarnitine profile 5. Amino acids and organic acids 19% 0% 5% Amino acids Organic Acids 71% 5% Ketones Acylcarnitine profile Amino acids and orga...
62 Hyperammonemia Inherited Disorders Urea cycle defects Defects of urea cycle intermediate transport (HHH, LPI) Organic Acidurias FAOD Acquired Disorders Transient hyperammonemia of the newborn Reye Syndrome Liver Failure Valproate therapy Infection with urease positive bacteria Leukemia therapy Severe systemic illness
63 Back to Patient: Additional Laboratory Studies Amino acids increased glutamine Organic acids increased orotic acid Diagnosis: Partial Ornithine transcarbamoylase deficiency (OTC)
64 The Urea Cycle
65 Urea Cycle Disorders - Neonatal Presentation Normal at birth Develop poor feeding, vomiting, lethargy, irritability, tachypnea after protein feed (about 24 hrs) Same presentation as Sepsis Respiratory alkalosis Family history of unexplained neonatal death
66 Urea Cycle - Infantile Presentation to Adult Variable anorexia, lethargy, failure to thrive, migraine/headache Mental status change after protein Self selected low protein diet Normal Developmental delay Irritability, behavior problems Intermittent encephalopathy
67 OTC Deficiency X-Linked Urea Cycle Defect In Males Severe defect neonatal coma massive hyperammonemia Partial defect later onset variable hyperammonemia In Females May or may not be symptomatic depending on Lyonization Often avoid protein
68 Genetic Hyperammonemia Differential ALKALOSIS primary urea cycle defect ACIDOSIS organic acidemia, mitochondrial, lactic acidosis HYPOGLYCEMIA CARDIAC +/- LIVER +/-,MUSCLE +/- FAOD
69 Treatment Stop all protein intake Maintain Anabolism high glucose infusion with insulin (If FAOD not suspected add Lipid) Remove Ammonia Hemodialysis Activate alternate pathways sodium benzoate, sodium phenylacetate, arginine/ citrulline (Ammonul) Correct acidosis, fluid and electrolyte balance
70 College Binge? An 18 year old college student was brought to the ED disoriented. She had been at a prefinal party with friends where alcohol was served. Friends reported that she didn t eat all day because she didn t want to gain weight from the party. She got to the party had one drink and became disoriented and ataxic. They brought her to the ED. She swore she only had one drink.
71 Initial Findings Vital Signs: Pulse 100, Respiration 20, Blood pressure 70/20, Temp: 98.6 General: drowsy but arousable Neuro: ataxic gait CT scan (head) normal Electrolytes: CO 2 18 Anion gap 19 Uric acid=11.2 U/A neg.
72 IEM Drugs Post-ictal state Suspected Diagnosis 1. Alcohol intoxication 2. Drugs 3. Post-ictal state 4. IEM 0% 4% 0% 96% Alcohol intoxication
73 Received a liter of NS with dextrose with improvement of BP and mental status Blood alcohol within legal limit Tox screen - negative
74 What do we know? Fasted Ataxia and stupor Hypotension Alcohol within legal limit No glucose obtained initially but improved with glucose infusion Acidosis Increased uric acid
75 Assuming a metabolic disease is likely what tests should be ordered? 1. Acylcarnitine profile 67% 2. Amino acids 3. Porphyrins 4. Purines and pyrimidines 13% 0% 21% Acylcarnitine profile Amino acids Porphyrins Purines and pyrimidines
76 Tests you would order? Acylcarnitine profile increased C8 Urine Organic Acid increased dicarboxylic acids (adipic, suberic, sebacic), hexanoylglycine Consistent with MCAD deficiency
77 FAOD Hypoglycemia, lethargy, hepatomegaly, cardiomyopathy, liver failure, arrhythmia Lab Findings: no ketosis, CK, Uric Acid Acute Treatment: Glucose infusion mg/kg/min til stable, then Continuous enteral feeding low-fat, high glucose, normal protein L carnitine 100 mg/kg/day (controversial and should be avoided in long chain disorders)
78 Chronic Treatment of Fatty Acid Oxidation Defect Avoid fasting!!! Frequent carbohydrate meals When ill institute emergency protocol Oral hydration if possible (not vomiting, good appetite) IV D10 solution 1.5 x maintenance May decompensate rapidly err on the side of treatment
79 MCAD Most common inherited disorder of fatty acid metabolism If undiagnosed, mortality rate of 25% Autosomal recessive transmission MCAD is necessary for mitochondrial beta-oxidation of fatty acids
80 MCAD Presentation Classic presentations SIDs/near-miss SIDs Vomiting and lethargy after a period of fasting in a child 3-15 months of age Few present after 4 years of life Decompensate from fasting, febrile illness, stressors (surgery), or alcohol consumption triggers a Reye s syndrome like illness
81 Newborn Screening Revolution Tandem Mass Spectrometry (MS/MS) Organic acidopathies Amino acidopathies Fatty acid metabolism
82 MS/MS: Sorts and counts
83
84 Newborn Screening: NJ 54 disorders by MS/MS & other technologies Fatty acid oxidation disorders Organic Acidemias Urea Cycle Defects Amino acid disorders Biotinidase CAH CF Galactosemia Hemoglobinopathies Hypothyroidism
85
86 LCHAD LCHAD.htm Sisters with propionic acidemia ( Glutatic Acidemia I ( es/nikkiga1.php)
87 General Emergency Management for Suspected IEM Maintain ventilation and circulation Avoid catabolism high glucose infusion 7-10 mg/kg/min (D X Maintenance) Stop intake of potential toxin Correct Electrolytes Correct acidosis R/O Infection/treat Consult/Transfer Metabolic Center
88 Some Specific Management of Suspected IEM Prevent catabolism IV Glucose 7-10 mg/kg/min +/- intralipid 2 g/kg/d (if FAOD not suspected) Hyperammonemia Suspected Urea Cycle Defect 250 mg/kg arginine over 90 min, then 250 mg/kg/d via central line 250 mg/g NaBenzoate/NaPhenylacetate (ammonul) load IV over min via central line, then 250 mg/kg/d hemodialysis Ketotic Hypoglycemia Suspected Organic Acidemia 50 mg/kg levocarnitine IV loading; mg/kg/24 hr 1 mg B12 IM (hydroxy B12) Biotin 10 mg PO Hypoketotic Hypoglycemia Suspected FAOD Avoid lipid Avoid fasting Provide glucose IV or enteral feeding
89 Toxin Removal Consider for intoxication states (branch chain organic acidurias, urea cycle defects) Exchange transfusion least effective Peritoneal dialysis mg/kg dialysate, 15 min fill, 30 min dwell, 15 min drainage over hrs. Simple but complicated by poor drainage, leakage of dialysate, risk of overhydration Hemodialysis most effective
90 Vitamin Cofactors Biotin mg/day Carnitine mg po, 400 mg IV 100 mg po, iv Cobalamin, B mg/day Folinic acid mg/day Pyridoxine mg/day Riboflavin mg/day Thiamine, B mg/day Propionic, MCD, PC BCOA, Primary hyperammonemia, hyperlacticacidemia FAOD MMA Folinic acid responsive sx Pyridoxine responsive sx Glutaric acidemia, FAOD MSUD, hyperlacticacidemia
91 Hyperammonemia Lab findings: ammonia >400 μmol/l respiratory alkalosis May have significant handicap despite treatment Treatment: Hemodialysis High energy, protein-free nutrition When NH 3 < 150 add protein (iv amino acids) Sodium benzoate 250 mg/kg load over min and 250 mg/kg/day; sodium phenylbutyrate 250 mg/kg load over min and 250 mg/kg/day (Ammonul = 10% solution of above) L arginine 200 mg/kg/day iv L-carnitine 400 mg IV
92 REMEMBER. Inborn Errors of Metabolism Individually rare.but collectively numerous. Keep your index of suspicion high.
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