| Disease ID | Source | Name | Description |
| 608611 | OMIM | Ribose 5-phosphate isomerase deficiency (RPIAD) | An autosomal recessive inborn error of polyols metabolism characterized by highly elevated level of ribitol and arabitol in brain and body fluids. Clinical features include leukoencephalopathy, psychomotor retardation from early life, neurologic regression, and a mild sensorimotor neuropathy. The disease is caused by variants affecting the gene represented in this entry. |