| Disease ID | Source | Name | Description |
| 230400 | OMIM | Galactosemia 1 (GALAC1) | A form of galactosemia, an inborn error of galactose metabolism typically manifesting in the neonatal period, after ingestion of galactose, with jaundice, hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycemia, renal tubular dysfunction, muscle hypotonia, sepsis and cataract. GALAC1 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry. |