AICA-ribosuria (AICA-ribosiduria)
Jump to navigation
Jump to search
Pathology
- accumulation of AICA-ribotide & its derivatives in erythrocytes & fibroblasts
Genetics
- associated with defects in ATIC
Clinical manifestations
- neurologically devastating
- profound mental retardation
- epilepsy,
- dysmorphic features
- congenital blindness
Laboratory
- urine chemistry: massive amounts of AICA-riboside in urine