GUTHRIE!!!
a mnemonic i picked up somewhere
GUTHRIE card: Guthrie Can Help Predict Bad Metabolism
- Galatossemia
- Cystic fibrosis/Congenital adrenal hyperplasia
- Hypothyroidism
- Phenylketonuria: AR Chr 12, PAH lack (phenylalanine hydroxylase) --> no tyrosin and PA accumulate, forming Phenylpyruvate (phenylketone) which is excreted in urine
- Biotidinase deficiency
- Maple Syrup urine disease: AR: BCKDH lack branched chain a-Keto acid dehydrogenase --> buildup of branched chain aminoacids (leucine, valine)
GUTHRIE card: Guthrie Can Help Predict Bad Metabolism
- Galatossemia
- Cystic fibrosis/Congenital adrenal hyperplasia
- Hypothyroidism
- Phenylketonuria: AR Chr 12, PAH lack (phenylalanine hydroxylase) --> no tyrosin and PA accumulate, forming Phenylpyruvate (phenylketone) which is excreted in urine
- Biotidinase deficiency
- Maple Syrup urine disease: AR: BCKDH lack branched chain a-Keto acid dehydrogenase --> buildup of branched chain aminoacids (leucine, valine)
posted by scientia at
8:37 AM
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