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AICA-ribosuria (AICA-ribosiduria)
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
General
inborn error of metabolism
Database Correlations
OMIM 608688
References
- UniProt :accession P31939
- OMIM :accession 608688