Aminoacidurias (genetic)
Last updated: Friday, 16, July, 2010
| Causes | Appropriate Tests |
|---|---|
Clinical presentation varies with the specific disorder. | |
Overproduction | Amino acid levels are increased in plasma and urine, however measurement of fasting plasma amino acids is preferable for diagnosis and is required for monitoring treatment. |
Phenylalanine. | |
Homocystinuria | Homocystine; organic acids - urine. |
Maple syrup urine disease | Leucine, isoleucine, valine; organic acids - urine. |
Tyrosinaemia type I | Organic acids - urine incl succinylacetone; tyrosine - urine. |
Non-ketotic hyperglycinaemia | Glycine. CSF glycine is the definitive test. |
Citrullinaemia | Citrulline; ammonium. |
Hypophosphatasia | Ethanolamine phosphate, ALP. |
Leakage | Amino acids - urine levels are increased; amino acids - plasma levels are normal or low. |
Cystinuria | Cystine, lysine, arginine, ornithine - amino acids - urine. |
Lysinuric protein intolerance | Lysine - amino acids - urine; ammonium. |
Fanconi syndrome | Amino acids - urine; phosphate - urine, glucose - urine, alpha-1-microglobulin - urine; urine acidification test. |