iap-ahmedabad-inborn error of metabolism

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an approach to iem in pediatric pt.s

an approach to iem in pediatric pt.s

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