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Definition

A neurologically devastating inborn error of purine biosynthesis. Patients excrete massive amounts of AICA-riboside in the urine and accumulate AICA-ribotide and its derivatives in erythrocytes and fibroblasts. AICAR causes profound mental retardation, epilepsy, dysmorphic features and congenital blindness.

Acronym

AICAR

Synonyms

AICA-ribosiduria
AICA-ribosuria
AICA-ribosuria due to ATIC deficiency

 
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