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Patterns of abnormalities: Argininemia - elevated plasma arginine Argininosuccinic aciduria - elevated plasma citrulline, elevated plasma argininosuccinate, low plasma arginine Carbamyl phosphate synthetase deficiency - low plasma citrulline, ±elevated plasma glutamine (identical pattern to ornithine transcarbamylase deficiency) Citrin deficiency - elevated plasma citrulline, threonine, methionine, lysine, and arginine Citrullinemia - elevated plasma citrulline, low plasma arginine Cystinuria - elevated urine cystine, lysine, arginine, and ornithine Glycine encephalopathy - CSF:Plasma glycine ratio >0.08 HHH syndrome - elevated plasma ornithine Homocystinuria - elevated plasma homocystine* and methionine Hyperprolinemia - elevated plasma proline Lysinuric protein intolerance - elevated urine lysine, arginine, and ornithine Maple syrup urine disease - elevated plasma alloisoleucine, isoleucine, leucine, and valine with perturbation of the normal 1:2:3 ratio of isoleucine:leucine:valine, low plasma alanine Ornithine aminotransferase deficiency - elevated plasma ornithine Ornithine transcarbamylase deficiency - low plasma citrulline, ±elevated plasma glutamine (Identical pattern to carbamyl phosphate synthetase deficiency) Phenylketonuria - elevated plasma phenylalanine ± low plasma tyrosine Tyrosinemia types I & II - elevated plasma tyrosine Vitamin B12 (cobalamin) processing disorders - elevated plasma homocystine* with low or normal plasma methionine * Routine plasma amino acid analysis measures free plasma homocystine, not total plasma homocystine. Total plasma homocystine is the preferred test for the diagnosis and management of homocystinuria and disorders of vitamin B12 (cobalamin) transport and synthesis. Courtesy of V Reid Sutton, MD.