Aminoacidurias (genetic)

Last updated: Friday, 16, July, 2010
CausesAppropriate 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.

Phenylketonuria

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.