1. presentation of organic acidemias
    tests and innitial management
    • acidosis
    • ketones
    • high ammonia
    • first few days of life, after protein introduced
    • check NH3 and urine organic acids
    • hydrate and restrict protein
  2. isovaleric acidemia highlights
    • lethargy
    • poor feeding
    • seizures
    • high risk of infection
    • odor of sweaty feet
    • treat with protein restriction
  3. highlights of disorders of fatty acid metabolism
    • auto-recessive
    • hypoglycemia and hepatomegaly
    • problems induced by periods of fasting (illness) but children may be normal in between
    • serum AAs normal
    • check plasma acylcarnitine profile
  4. urea cycle defects
    • high NH3 but no ketones
    • resp alkalosis or lactic acidosis (no ketones)
    • present with symptom free period followed by hypotonia and coma
    • treat by reducing protein intake and increasing IV glucose, consider dialysis
  5. presentation, dx, rx of galactosemia
    • abd distention
    • hypoglycemia
    • gram negative sepsis
    • non-glucose reducing substances in urine

    • due to deficiency in galactose-1-phosphate uridyltransferase (GALT) deficiency
    • Dx: measuring RBC GALT

    treat with restriction of galactose
  6. inherited fructose deficiency
    • presents with "seizures just after meals"
    • treat with fructose restriction
  7. drug of choice for refractory hypoglycemia in infants
Card Set
Inborn errors of metabolism