title: 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.
authors.affiliation: Clinical Biochemistry Laboratory, University of Roma La Sapienza, Italy. ccrifo@caspur.it
authors.forename: C
authors.initials: C
authors.lastname: Salerno
authors.forename: P
authors.initials: P
authors.lastname: D'Eufemia
authors.forename: R
authors.initials: R
authors.lastname: Finocchiaro
authors.forename: M
authors.initials: M
authors.lastname: Celli
authors.forename: A
authors.initials: A
authors.lastname: Spalice
authors.forename: P
authors.initials: P
authors.lastname: Iannetti
authors.forename: C
authors.initials: C
authors.lastname: Crifò
authors.forename: O
authors.initials: O
authors.lastname: Giardini
mesh_terms: D000264:Adenylosuccinate Lyase / Q000172:deficiency*; D000293:Adolescent; D019587:Dietary Supplements; D005260:Female; D005947:Glucose / Q000378:metabolism; D006801:Humans; D009460:Neurologic Examination; D011687:Purines / Q000096:biosynthesis*; D012266:Ribose / Q000008:administration & dosage / Q000494:pharmacology*; D012640:Seizures / Q000517:prevention & control; D000637:Transaminases / Q000378:metabolism