Abnormal metabolites

Disorder	Abnormal metabolite(s)*
Organic acidemias
Methylmalonic acidemia	Methylmalonic and methylcitric acids
Propionic acidemia	3-hydroxypropionic acid, propionylglycine, methylcitric acid
Isovaleric acidemia	Isovalerylglycine
Glutaric acidemia type I	Glutaric, 3-hydroxyglutaric, dicarboxylic acids, and acylglycine
3-methylglutaconic aciduria	3-methylglutaconic acid
2-hydroxy-3-methylbutyryl-CoA dehydrogenase deficiency	2-hydroxy-3-methylblutyric acid, tiglyglycine, 2-ethylhydracrylic acid
2-hydroxyglutaric aciduria	2-hydroxyglutaric acid
Disorders of ketogenesis
Medium chain acyl-CoA dehydrogenase (MCAD) deficiency	Hexanoylglycine and suberylglycine
3-ketothiolase deficiency	2-hydroxy-3-methylbutyric acid, tiglyglycine, 2-methyl-3-hydroxyacetoacetic acid
3-hydroxy-3-methylglutaryl (HMG)-CoA lyase deficiency	3-hydroxy-3-methylglutaric, 3-methylglutaric, and 3-methylglutaconic acids
Other disorders
Canavan disease	N-acetylaspartic acid
Glutaric acidemia type II (multiple acyl-CoA dehydrogenase deficiency)	Glutaric and 2-hydroxyglutaric acids
Mevalonate kinase deficiency	Mevalonic acid
Maple syrup urine disease	2-hydroxyisovaleric, 2-hydroxy-3-methylvaleric, and 2-ketoisocaproic acids
Phenylketonuria	Phenylpyruvic and phenyllactic acids
Fumarase deficiency	Fumaric acid
Glutathione synthetase deficiency	5-oxoproline (pyroglutamic acid)
Biotinidase deficiency^¶	3-hydroxyisovaleric acid, methylcitric acid, 3-methylcrotonylglycine, propionylglycine
Holocarboxylase synthetase deficiency^¶	3-hydroxyisovaleric acid, methylcitric acid, 3-methylcrotonylglycine, propionylglycine
Glycerol kinase deficiency	Glycerol
Ethylmalonic encephalopathy	Ethylmalonic and methylsuccinic acids
Disorders of uncertain consequence
3-methylcrotonyl-CoA carboxylase deficiency	3-methylcrotonylglycine
Short chain acyl-CoA dehydrogenase deficiency	Ethylmalonic acid, butyrylglycine

* Other abnormal metabolites may be seen in these disorders, but these listed are the most characteristic for the diagnosis.
¶ Diagnosis by urine organic acid analysis is unreliable.

Courtesy of V Reid Sutton, MD.

Graphic 50227 Version 7.0

خرید پکیج

Abnormal metabolites