Essential pentosuria(PNTSU)

MedGen UID:: 78646
•Concept ID:: C0268162
•: Disease or Syndrome

Synonyms:	L-Xylulose reductase deficiency; L-Xylulosuria; Pentosuria; PNTSU; Xylitol dehydrogenase deficiency
SNOMED CT:	L-xylulose reductase deficiency (190764000); L-xylulosuria (190764000); Xylitol dehydrogenase deficiency (190764000); Essential pentosuria (190764000); Essential benign pentosuria (190764000)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	DCXR (17q25.3)

Monarch Initiative:	MONDO:0009846
OMIM®:	260800
Orphanet:	ORPHA2843

Definition

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 (summary by Hiatt, 2001). [from OMIM]

Additional description

From MedlinePlus Genetics
Essential pentosuria is a condition characterized by high levels of a sugar called L-xylulose in urine. The condition is so named because L-xylulose is a type of sugar called a pentose. Despite the excess sugar, affected individuals have no associated health problems. https://medlineplus.gov/genetics/condition/essential-pentosuria