Pentosuria

Alternative Names

  • PNTSU
  • L-Xylulosuria
  • Xylitol Dehydrogenase Deficiency
  • L-Xylulose Reductase Deficiency
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number

260800

Mode of Inheritance

Autosomal recessive

Gene Map Locus

17q25.3

Description

Essential pentosuria is an inborn error of metabolism in which 1 to 4 gm of the pentose L-xylulose is excreted in the urine each day. It is a benign condition that occurs principally in individuals of Ashkenazi Jewish descent. [From OMIM]

Epidemiology in the Arab World

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Other Reports

Lebanon

Khachadurian (1962) described three Lebanese inbred families affected with pentosuria. There were 12 cases in these three families, and the pedigrees pointed towards an autosomal recesisve mode of transmission. 

Politzer and Fleischmann (1962) also studied a large consanguineous Lebanese kindred living in South Africa. A total of 127 members of this family were studied. Ten members across three generations were found to be affected by pentosuria in this family.  Although the authors considered an autosomal dominant mode of inheritance, a re-investigation of this family by Lane and Jenkins in 1985 concluded that the inheritance was recesisve. 

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