ribose

Ribose is a naturally occurring pentose sugar that was investigated as a metabolic intervention for **5'-nucleotidase syndrome**, a rare developmental disorder characterized by excessive cytosolic 5'-nucleotidase activity. This enzymatic overactivity leads to the depletion of intracellular nucleotide pools, resulting in symptoms such as developmental delay, seizures, ataxia, and recurrent infections. The therapeutic rationale for ribose administration is to increase the availability of **phosphoribosyl pyrophosphate (PRPP)**, a critical substrate for the de novo synthesis and salvage pathways of purine and pyrimidine nucleotides, thereby bypassing the metabolic block and restoring nucleotide balance. In a Phase II clinical trial sponsored by the **National Center for Research Resources (NCRR)**, oral ribose was evaluated at doses of 600 mg/kg per day, both as a monotherapy and in combination with uridine and thymidine. While ribose treatment showed some neurological improvements, it was ultimately found to be less effective than uridine therapy in managing the syndrome's manifestations.

Other names

D-ribosebeta-D-ribofuranose