| Disease ID | Source | Name | Description |
| 610006 | OMIM | Short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD) | Autosomal recessive disorder and consists of a defect in catabolism of L-isoleucine which is characterized by an increase of 2-methylbutyrylglycine and 2-methylbutyrylcarnitine in blood and urine. Affected individuals have seizures and psychomotor delay as the main clinical features. The disease is caused by variants affecting the gene represented in this entry. |