Effect of d-ribose on purine synthesis and neurological symptoms in a patient with adenylosuccinase deficiency

Abstract

Oral supplementation of 10 mmol/kg/day of d-ribose to a patient with an inherited deficit of adenylosuccinase, severe psychomotor retardation, and epilepsy caused a marked increase in plasma concentration and urinary excretion of urate, while minor changes in succinylpurine levels were observed. d-Ribose administration was accompanied by a slight improvement of behaviour and a progressive reduction of seizure frequency, which increased dramatically upon two attempts to withdraw the drug. Substitution of d-ribose with an equivalent amount of d-glucose did not result in an increase of seizure frequency.