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26 Cards in this Set
- Front
- Back
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confirmatory test for phenylketonuria |
-HPLC -MS/MS -GC/MS |
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INC level of phenylalanine & DEC level of tyrosine |
phenylketonuria |
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phenylketonuria can be treated with? |
-drug of choice: kuvan = enhances ability of PAH -diet modification to DEC phenylalanine intake |
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-fumarylacetoacetate hydrolase deficiency -FAILURE to thrive |
tyrosinemia type 1 |
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-liver & kidney FAILURE -liver cancer later in life |
tyrosinemia type 1 |
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-tyrosine aminotransferase deficiency -mental retardation |
tyrosinemia type 2 |
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-excessive tearing -painful skin lesions |
tyrosinemia type 2 |
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-4 hydroxy phenylpyruvate dioxygenase -MILD mental retardation |
tyrosinemia type 3 |
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-seizures -periodic loss of balance |
tyrosinemia type 3 |
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-accompanied by elevated methionine & hydroxyphenylpyruvic acid |
tyrosinemia |
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clinical features of tyrosinemia |
-liver damage (cirrhosis) -kidney damage -rickets (bone) |
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-autosomal recessive gene --HGD gene |
alkaptonuria |
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responsible for homogentisic oxidase production |
HGD gene |
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clinical feature: -ochronosis (tissue pigmentation) --sclera, connective tissue, cartilage, bones, skin |
alkaptonuria |
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clinical feature: brown to black urine upon standing |
alkaptonuria |
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diagnostic indicator: -darkening of urine upon standing -because of oxidation of homogentisic acid |
alkaptonuria |
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test for alkaptonuria |
-ferric chloride test |
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-not limited to alkaptonuria -drop of ferric chloride IN urine -positive if black color |
ferric chloride test |
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treatment for alkaptonuria |
high dose of vitamin C |
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-autosomal recessive trait -enzyme reduced or absent --alpha-keto acid decarboxylase |
maple syrup urine dse (MSUD) |
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-accumulation of the branched chain amino acids: leucine, isoleucine, valine |
maple syrup urine dse (MSUD) |
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? mg/dl of leucine is indicative of maple syrup urine dse (MSUD) |
4 mg/dl |
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clinical feature: failure to thrive, muscular rigidity, mental retardation, hypoglycemia, CNS symptoms
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maple syrup urine dse (MSUD) |
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MOST striking feature is BURNT SUGAR or maple syrup odor of urine & skin |
maple syrup urine dse (MSUD) |
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screening test for maple syrup urine dse (MSUD) |
-modified guthrie test --antagonist is 4-azaleucine |
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diagnostic test for maple syrup urine dse (MSUD) |
-amino acid analysis (HPLC) -MS/MS |
