Home > Clinical problems > Complete clinical problem listing > Aminoacidurias (genetic)

PRINT PAGE

EMAIL

Aminoacidurias (genetic)
Last Updated: Monday, 21 January 2008

			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.
	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.