Short Communication.Abnormalities in succinylpurines in fumarase deficiency: Possible role in pathogenesis of CNS impairment.

Abstract

Fumarase deficiency, psychomotor retardation, succinylaminoimidazole carboxamide riboside, succinyladenosine, succinylpurines, cerebrospinal fluid.The report described presence of succinylaminoimidazole carboxamide riboside (SAICAR)in the cerebrospinal fluid of a patient with deficiency of fumarase.The neurotoxic metabolite increase is caused by secondary inhibition of adenylosuccinate lyase by accumulating fumarate and its presence may be seen as a casuse of neurological impairment.