Amino acid | High in plasma | Low in plasma | High in urine |
Alanine | Disorders of pyruvate metabolism, urea cycle disorders, mitochondrial disorders | Untreated maple syrup urine disease | Disorders of pyruvate metabolism, urea cycle disorders, mitochondrial disorders |
Alloisoleucine | Maple syrup urine disease | – | Maple syrup urine disease |
Arginine | Argininemia | Argininosuccinic aciduria, citrullinemia, ornitine transcarbamylase deficiency, carbamylphosphatase deficiency, inadequate diet | Argininemia, cystinuria, lysinuric protein intolerance |
Argininosuccinate | Argininosuccinic aciduria | – | Argininosuccinic aciduria |
Aspartate | – | – | – |
Citrulline | Citrullinemia, citrin deficiency, argininosuccinic aciduria | Ornitine transcarbamylase deficiency, carbamylphosphatase deficiency, inadequate diet | Citrullinemia, citrin deficiency, argininosuccinic aciduria |
Cystine | – | Molybdenum cofactor deficiency/sulfate oxidase deficiency | Cystinuria |
Glutamate | Improper sample handling | – | – |
Glutamine | Urea cycle disorders/hyperammonemia | Improper sample handling | – |
Glycine | Glycine encephalopathy, organic acidemias | – | Glycine encephalopathy, organic acidemias |
Histidine | Histidinemia (benign condition) | – | Histidinemia (benign condition) |
Homocystine (free) | Homocystinuria, disorders of vitamin B12 transport and synthesis | – | Cystathionine beta-synthetase deficiency, disorders of vitamin B12 transport and synthesis |
Isoleucine | Maple syrup urine disease, fasting | – | Maple syrup urine disease |
Leucine | Maple syrup urine disease, fasting | – | Maple syrup urine disease |
Lysine | Citrin deficiency, hyperlysinemia (benign) | – | Cystinuria, lysinuric protein intolerance |
Methionine | Homocystinuria, citrin deficiency, liver dysfunction | Disorders of vitamin B12 transport and synthesis | Cystathionine beta-synthetase deficiency, liver dysfunction |
Ornithine | Ornitine aminotransferase deficiency, hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) syndrome | – | Cystinuria, lysinuric protein intolerance, ornithine aminotransferase deficiency |
Phenylalanine | Phenylketonuria | – | Phenylketonuria |
Proline | Hyperprolinemia | – | Hyperprolinemia |
Serine | – | 3-phosphoglycerate dehydrogenase deficiency | – |
Threonine | Citrin deficiency | – | – |
Tryptophan | – | – | – |
Tyrosine | Tyrosinemia types I and II, hepatic dysfunction | Phenylketonuria | Tyrosinemia types I and II, hepatic dysfunction |
Valine | Maple syrup urine disease, fasting | – | Maple syrup urine disease |
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