Category
page 1Phospholipid metabolism disorders
Barth syndrome
lipid metabolism disorder that has material basis in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin
3-methylglutaconic aciduria type 3
3-methylglutaconic aciduria that has material basis in mutation in the OPA3 gene
Hyperphosphatasia with mental retardation syndrome type 1
human disease
3-methylglutaconic aciduria
organic acidemia that is characterized by elevated levels of 3-methylglutaconic acid and 3-methylglutaric acid in the urine