Disease ID | Source | Name | Description |
617596 | OMIM | Maleylacetoacetate isomerase deficiency (MAAID) | An autosomal recessive inborn error of metabolism characterized by mild elevations in succinylacetone in blood and urine, usually identified by newborn screening. Liver function and coagulation are normal. MAAID is a benign disorder. The disease is caused by variants affecting the gene represented in this entry. |