Disease ID | Source | Name | Description |
231680 | OMIM | Glutaric aciduria 2A (GA2A) | An autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It is characterized by multiple acyl-CoA dehydrogenase deficiencies resulting in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. The disease is caused by variants affecting the gene represented in this entry. |