| Disease ID | Source | Name | Description |
| 246450 | OMIM | 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) | An autosomal recessive disease affecting ketogenesis and L-leucine catabolism. The disease usually appears in the first year of life after a fasting period and its clinical acute symptoms include vomiting, seizures, metabolic acidosis, hypoketotic hypoglycemia and lethargy. These symptoms sometimes progress to coma, with fatal outcome in some cases. The disease is caused by variants affecting the gene represented in this entry. |