Effect of D-ribose on purine synthesis and neurological symptoms in a patient with adenylosuccinase deficiency.
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.
Salerno
C
C
Clinical Biochemistry Laboratory, University of Roma La Sapienza, Italy. ccrifo@caspur.it
D'Eufemia
P
P
Finocchiaro
R
R
Celli
M
M
Spalice
A
A
Iannetti
P
P
Crifò
C
C
Giardini
O
O
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