| Disease ID | Source | Name | Description |
| 243500 | OMIM | Isovaleric acidemia (IVA) | A metabolic disorder characterized by retarded psychomotor development, a peculiar odor resembling sweaty feet, an aversion to dietary protein, and pernicious vomiting, leading to acidosis and coma. The acute neonatal form leads to massive metabolic acidosis from the first days of life and rapid death. The disease is caused by variants affecting the gene represented in this entry. |