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Metabolic Final

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
Created by: KChatham
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