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Metabolic Final
Question | Answer |
---|---|
Common amino aciduria | PKU, maple syrup urine disease, homocystinuria, non-ketotic hyperglycinemia |
PKU amino acid | Phenylalanine |
PKU Diagnostic test | Plasma phenylalanine & tyrosine |
Type of amino aciduria MSUD | branched chain amino aciduria- thiamine |
MSUD neonatal presentation | acute dehydration, deteriorating neurological function and vomiting, cerebral edema, maple syrup smell in body discharges, FTT, neurological deterioration, minor presentations involve episodic illnesses |
Therapy MSUD | stop natural protein intake, rehydrate with 10% glucose and insulin drip to promote anabolism, liver transplant? |
Homocystinuria is called by what deficiency | cystathionine beta-synthase |
Homocystinuria can be responsive or non-responsive to what? | B12 |
Homocystinuria clinical presentation | developmental delay/MR, ectopic lentis and/or severe myopia, skeletal abnormalities such as excessive height/length of limbs, vascular abnormalities (thromboembolism), marfan like appearance |
Homocystinuria treatment | B12, protein restriction of methionine, betaine treatment, preventative measures to avoid thromboembolism |
Nonketotic hyperglycinemia | Deficiency of glycine (encephalopathy) |
Neonatal presentation nonketotic hyperglycemia | newborn seizures, myoclonic jerks, progressive lethargy. hypotonia, intractable seizures, death in infancy |