Last updated: Friday, 16, July, 2010
Clinical presentation varies with the specific disorder.
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.
Homocystine; organic acids - urine.
Maple syrup urine disease
Leucine, isoleucine, valine; organic acids - urine.
Tyrosinaemia type I
Organic acids - urine incl succinylacetone; tyrosine - urine.
Glycine. CSF glycine is the definitive test.
Ethanolamine phosphate, ALP.
Amino acids - urine levels are increased; amino acids - plasma levels are normal or low.
Cystine, lysine, arginine, ornithine - amino acids - urine.
Lysinuric protein intolerance
Lysine - amino acids - urine; ammonium.
Amino acids - urine; phosphate - urine, glucose - urine, alpha-1-microglobulin - urine; urine acidification test.