metabolic

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
isovaleric acidemia highlights
- lethargy
- poor feeding
- seizures
- high risk of infection
- odor of sweaty feet
- treat with protein restriction
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
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
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
inherited fructose deficiency
- presents with "seizures just after meals"
- treat with fructose restriction
drug of choice for refractory hypoglycemia in infants

diazoxide

Author

jmeglin

33734

Card Set

metabolic

Description

Inborn errors of metabolism

Updated

2010-09-10T01:23:23Z

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