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Biochem-Nitrogen Dis

Biochem-Nitrogen Metabolism Disorders-WVSOM Class of 2012

QuestionAnswer
deficient enzyme in pku? phenylalanine hydroxylase
most common disorder of amino acid metabolism? pku
Mental retardation, delayed development, hyperactivity, tremor, hypopigmentation are all symptoms of what disease? pku
diet prescribed in pku? phenylalanine is restricted, tyrosine is supplemented
albinism is caused by deficiency in what enzyme? tyrosinase
alkaptonuria is caused by deficiency in what enzyme? homogentisate oxidase deficiency
what is a symptom of alkaptonuria? urine darkens over time, osteoarthritis
what is the diet regimen of alkaptonuria? restrict phenylalanine and tyrosine
what is tested for in alkaptonuria? homogentisate can be detected in the urine
what is tested for in hyperhomocystinemia? elevated homocysteine and methionine
what enzyme is deficient in hyperhomocystinemia? cystathionine synthase
physical findings in homocystinuria? Causes lens displacement, skeletal abnormalities, premature arterial disease, mental retardation
treatment of homocystinuria? B6, B12, folate supplement; methionine restriction
what are test values for otc deficiency? hyperammonemia; increased urinary orotic acid
early symptoms of otc deficiency? vomiting, hypotonia, seizures, lethargy, cerebral edema, coma
late symptoms of otc deficiency? headache after a high protein meal, disorientation, irritability
which disease would present in infant males sooner than adult women? otc deficiency
what would be a dietary treatment in otc? low protein diet
what are symptoms of hyperammonemia? tremors, slurring of speech, blurred vision, vomiting, somnolence, coma
elevated leucine in blood and maple syrup urine are indicative of what? msud
what is deficient in msud? a-ketoacid dehydrogenase deficiency
what are physical symptoms of msud? feeding problems, vomiting, dehydration
Created by: mhassan
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