| Disease ID | Source | Name | Description |
| 210210 | OMIM | 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) | An autosomal recessive disorder of leucine catabolism. The phenotype is variable, ranging from neonatal onset with severe neurological involvement to asymptomatic adults. There is a characteristic organic aciduria with massive excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine, usually in combination with a severe secondary carnitine deficiency. The disease is caused by variants affecting the gene represented in this entry. |