Features include very common findings: Abnormal circulating enzyme concentration and Abnormal urine carbohydrate level; and common findings: Abnormal circulating carbohydrate concentration. 4 total HPO annotations.

DCXR encodes dicarbonyl and L-xylulose reductase (244 aa). Catalyzes the NADPH-dependent reduction of several pentoses, tetroses, trioses, alpha-dicarbonyl compounds and L-xylulose. Can use both NAD and NADP as cosubstrate but shows higher activity with NADP. Highest expression in Liver (801.9 TPM) and Prostate (216.0 TPM).

Pentosuria is associated with mutations in the DCXR gene on chromosome 17.

The DCXR protein participates in DCXR tetramer reduces L-xylulose to xylitol and Defective DCXR does not reduce L-xylulose to xylitol pathways.

DCXR is classified as a druggable target (Druggable Genome, Enzyme, and Short Chain Dehydrogenase Reductase categories) with score 0.0.

Genetic testing for DCXR is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 2 very common features, 1 common feature.

Estimated prevalence: Unknown (Unknown prevalence).

No clinical trials have been registered for pentosuria.

2 publications have been identified in PubMed for pentosuria. Research spans Other (50%) and Basic Science / Preclinical (50%).

Recent Publications

• Malatesta M (2025). [PMID: 40737316](https://pubmed.ncbi.nlm.nih.gov/40737316/). *Proc Natl Acad Sci U S A*. [Basic Science / Preclinical]

• Galperin MY (2025). [PMID: 40892933](https://pubmed.ncbi.nlm.nih.gov/40892933/). *Proc Natl Acad Sci U S A*. [Other]