Likely inborn error of metabolism

Gene: DCXR

Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with phenotype in OMIM and not in Gen2Phen. At least 2 variants identified within Ashkenazi Jewish population, that functional studies have shown to be loss of function variants that result in lack of the normal DCXR protein.

Created: 12 Aug 2019, 3:23 p.m. | Last Modified: 12 Aug 2019, 3:23 p.m.

Panel Version: 1.104

Comment on phenotypes: Essential pentosuria (Disorders of pentose metabolism) is a benign inborn error of metabolism, in which 1 to 4 gm of the pentose L-xylulose is excreted in the urine each day, as a result some patients maybe treated inappropriately for diabetes mellitus with insulin (PMID 22042873).

Created: 12 Aug 2019, 3:16 p.m. | Last Modified: 12 Aug 2019, 3:18 p.m.

Panel Version: 1.103

gene: DCXR review by Ellen McDonagh

PMID: 22042873 - Pentosuria, which affects almost exclusively individuals of Ashkenazi Jewish ancestry, is characterized by high levels of the pentose sugar L-xylulose in blood and urine and deficiency of the enzyme L-xylulose reductase. The condition is autosomal-recessive and completely clinically benign, but in the early and mid-20th century attracted attention because it was often confused with diabetes mellitus and inappropriately treated with insulin. In this publication, two different variants are reported in this gene from nine unrelated pentosuria patients of Ashkenazi Jewish descent. From the allele frequency of 0.0173 in Ashkenazi Jewish controls, a pentosuria frequency of approximately one in 3,300 in this population was predicted.

Created: 23 Feb 2017, 5:13 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
[Pentosuria] 260800

Publications

• 27604308
• 22042873