Pentosuria
General Information (adopted from Orphanet):
| Synonyms, Signs: |
L-XYLULOSE REDUCTASE DEFICIENCY L-XYLULOSURIA xylitol dehydrogenase deficiency Essential pentosuria |
| Number of Symptoms | 5 |
| OrphanetNr: | 2843 |
| OMIM Id: |
260800
|
| ICD-10: |
E74.8 |
| UMLs: |
C0268162 |
| MeSH: |
C536652 |
| MedDRA: |
10064170 |
| Snomed: |
190764000 55824003 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Disorder of pentose phosphate metabolism
-Rare genetic disease |
Symptom Information:
|
|
(HPO:0003110) | Abnormality of urine homeostasis | 9 / 7739 | ||||
|
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
|
|
(MedDRA:10064170) | Pentosuria | 1 / 7739 | ||||
|
|
(OMIM) | NADP-linked xylitol dehydrogenase defect | 1 / 7739 | ||||
|
|
(OMIM) | L-xylulosuria | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Description: (OMIM) |
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 Jews (summary by Hiatt, ... |
| Population genetics OMIM |
Pentosuria occurs almost exclusively in Jews. The frequency in American Jews is estimated at 1 in 2,000 to 2,500 (Hiatt, 2001). Khachadurian (1962) and Politzer and Fleischmann (1962) described pentosuria in Lebanese families. Soyama ... |