Human Inborn Errors of Metabolism

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Can you name the Human Inborn Errors of Metabolism?

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Labratory FindingDisorder
Elevated Phenylalanine in plasma
Abnormal ratios of Iso:Leu:Val and increased alloisoleucine in plasma
Elevated Succinylacetone in urine
Low hexosaminidase alpha activity
Homozygous null mutations within gene encoding glucose 6-phosphatase
Elevated ratio of cerebral spinal fluid glycine to plasma glycine
Argininosuccinate elevations in plasma
Elevations of both xanthine and sulfocysteine in plasma
High levels of methylmalonic acid, methyl crotonyl glycine, 3-OH isovaleric acid, 3-OH propionoic acid in urine
Increased adenosine deaminase activity

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Created Oct 20, 2012ReportNominate
Tags:biochemistry