| Disease ID | Source | Name | Description |
| 103050 | OMIM | Adenylosuccinase deficiency (ADSLD) | An autosomal recessive disorder characterized by the accumulation in the body fluids of succinylaminoimidazole-carboxamide riboside (SAICA-riboside) and succinyladenosine (S-Ado). Most children display marked psychomotor delay, often accompanied by epilepsy or autistic features, or both, although some patients may be less profoundly retarded. Occasionally, growth retardation and muscular wasting are also present. The disease is caused by variants affecting the gene represented in this entry. |