Metabolic Final
Quiz yourself by thinking what should be in
each of the black spaces below before clicking
on it to display the answer.
Help!
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| Common amino aciduria | PKU, maple syrup urine disease, homocystinuria, non-ketotic hyperglycinemia
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| PKU amino acid | Phenylalanine
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| PKU Diagnostic test | Plasma phenylalanine & tyrosine
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| Type of amino aciduria MSUD | branched chain amino aciduria- thiamine
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| 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
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| Therapy MSUD | stop natural protein intake, rehydrate with 10% glucose and insulin drip to promote anabolism, liver transplant?
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| Homocystinuria is called by what deficiency | cystathionine beta-synthase
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| Homocystinuria can be responsive or non-responsive to what? | B12
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| 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
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| Homocystinuria treatment | B12, protein restriction of methionine, betaine treatment, preventative measures to avoid thromboembolism
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| Nonketotic hyperglycinemia | Deficiency of glycine (encephalopathy)
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| Neonatal presentation nonketotic hyperglycemia | newborn seizures, myoclonic jerks, progressive lethargy. hypotonia, intractable seizures, death in infancy
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Created by:
KChatham
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