Aminoacidurias

Keywords: Aminoacidurias (genetic)

Causes

Appropriate Tests

 

Clinical presentation varies with the specific disorder. Please consult a specialist in Biochemical Genetics / Chemical Pathology.

Overproduction

Amino acids levels are increased in plasma and urine. Generally, measurement of fasting plasma amino acids is preferable for diagnosis and is required for monitoring treatment.

Phenylketonuria

Phenylalanine.

Homocystinuria

Homocysteine. Organic acids urine.

Maple syrup urine disease

Leucine, isoleucine, valine. Organic acids urine.

Tyrosinaemia type I

Organic acids urine including succinylacetone, tyrosine.

Non-ketotic hyperglycinaemia

Glycine CSF, glycine ratio.

Citrullinaemia

Citrulline. Ammonia.

Hypophosphatasia

Ethanolamine phosphate. Alkaline phosphatase.

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. Ammonia.

Fanconi syndrome

Amino acids urine. Phosphate urine. Glucose urine. Alpha-1-microglobulin urine. Urine acidification test.