iap-ahmedabad-inborn error of metabolism

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an approach to iem in pediatric pt.s

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iap-ahmedabad-inborn error of metabolism

  1. 1. Approach to Inborn Error of Metabolism in a Neonate Filomena Hazel R. Villa, MD PL2
  2. 3. Objectives <ul><li>To recognize IEM in a neonate with non-specific signs and symptoms </li></ul><ul><li>To make use of simple lab tests in the diagnosis of IEM </li></ul><ul><li>To know the initial management of life threatening conditions associated with IEM </li></ul>
  3. 4. Signs and Symptoms <ul><li>May be gradual </li></ul><ul><li>May be sudden </li></ul><ul><li>May be catastrophic </li></ul>
  4. 5. Signs and Symptoms <ul><li>Respiratory </li></ul><ul><li>Cardiac </li></ul><ul><li>GI </li></ul><ul><li>Neurological </li></ul><ul><li>Infectious disease </li></ul>
  5. 6. Categories of IEM <ul><li>Disorders of: </li></ul><ul><li>Amino acids </li></ul><ul><li>Carbohydrates </li></ul><ul><li>Fatty acid </li></ul><ul><li>Lysosomal and peroxisomal function </li></ul><ul><li>Mitochondrial </li></ul><ul><li>Organic acids </li></ul>
  6. 7. Presentation <ul><li>Metabolic acidosis </li></ul><ul><li>Hyperammonemia </li></ul><ul><li>Hypoglycemia </li></ul>
  7. 8. Metabolic acidosis <ul><li>pH <7.35 </li></ul><ul><li>Excess H+ </li></ul><ul><li>HCO3 deficit </li></ul><ul><li>Calculate anion gap </li></ul><ul><ul><li>Na – (Cl + HCO3) </li></ul></ul><ul><ul><li>Normal is 8-16meq/l </li></ul></ul>
  8. 9. Metabolic Acidosis <ul><li>If Chloride is increased- HCO3 wasting </li></ul><ul><li>GI or renal disorders </li></ul><ul><li>If Chloride is Normal and </li></ul><ul><li>Anion gap is > = 16---  excess acid production </li></ul>
  9. 10. Metabolic acidosis <ul><li>Approach is to give Na HCO3 </li></ul><ul><li>If unresponsive to HCO3--  IEM </li></ul>
  10. 11. Hyperammonemia <ul><li>Normal ammonia level- < 50 umol/l </li></ul><ul><li>> 200 --  IEM </li></ul><ul><li>If within 24 hours of life; preterm, RD  THAN </li></ul><ul><li>After 24 hours-  IEM </li></ul>
  11. 12. Hypoglycemia <ul><li>Glucose level helps in the differential diagnosis </li></ul>
  12. 13. STEPS: <ul><li>1. Determine if there is metabolic acidosis </li></ul><ul><li>2. Is anion gap >16? </li></ul><ul><li>3. Is there hypoglycemia? </li></ul><ul><li>4. Is there hyperammonemia? </li></ul><ul><ul><li>Within 24 HOL? </li></ul></ul><ul><ul><li>After 24 HOL? </li></ul></ul>
  13. 14. Copyright ©1998 American Academy of Pediatrics
  14. 16. <ul><li>Healthy NB  rapidly ill, </li></ul><ul><ul><li>Ketoacidosis, poor feeding </li></ul></ul><ul><li>Vomiting, dehydration </li></ul><ul><li>Hypotonia, lethargy </li></ul><ul><li>Tachypnea, seizures </li></ul><ul><li>Coma, unusual odors </li></ul>Organic acidemia
  15. 17. Organic acidemia <ul><li>Labs: </li></ul><ul><li>Urine organic acids </li></ul><ul><li>Ketonuria (in the NB)- pathognomonic of IEM </li></ul><ul><li>Neutropenia, thrombocytopenia </li></ul><ul><li>+/- hyperammonemia </li></ul><ul><li>Abnormal acylcarnitine </li></ul>
  16. 18. <ul><li>Treatment: </li></ul><ul><li>Stabilize </li></ul><ul><li>Get rid of organic acid intermediates, and ammonia-  hemodialysis </li></ul><ul><li>Carnitine </li></ul><ul><li>After stabilization, may resume oral feeds </li></ul><ul><li>Consult dietitian, and metabolic specialist </li></ul>Organic acidemia
  17. 19. Urea cycle disorder <ul><li>No acidosis (respiratory alkalosis) </li></ul><ul><li>No ketones (unlike organic acidemia) </li></ul><ul><li>No hypoglycemia </li></ul><ul><li>But with hyperammonemia </li></ul>
  18. 20. <ul><li>Treatment: </li></ul><ul><li>Remove ammonia </li></ul><ul><li>Hydration with D10 + electrolytes </li></ul><ul><li>D/C all protein x 24 hours—calories from CHO and fat </li></ul><ul><li>Na phenylacetate/Na benzoate </li></ul><ul><li>Give arginine </li></ul><ul><li>Protein restriction for life </li></ul>Urea cycle disorder
  19. 21. <ul><li>Prognosis: guarded </li></ul><ul><li>Even with Treatment, many will die </li></ul><ul><li>Definitive treatment: liver transplant </li></ul>Urea cycle disorder
  20. 22. Summary <ul><li>Metabolic acidosis + hyperammonemia </li></ul><ul><li>Request for specific lab studies </li></ul><ul><li>Consult metabolic specialist </li></ul><ul><li>Initial therapy- stabilize patient! </li></ul><ul><li>Long term treatment- based on specific IEM </li></ul>
  21. 23. Thank you !

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