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pentosuria
Summary
- Synonym
-
- L-xylulose reductase deficiency
- L-xylulosuria
- PNTSU
- essential pentosuria
- xylitol dehydrogenase deficiency
- Definition
- An amino acid metabolic disorder characterized by excretion of excess pentose L-xylulose (1-4 g/day) in the urine that has_material_basis_in homozygous or compound heterozygous mutation in DCXR on 17q25.3.
- Super Class
- amino acid metabolic disorder autosomal recessive disease
External Links
- Disease Ontology
- DOID:0111258
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q7Z4W1 | L-xylulose reductase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0011013 | Abnormal circulating carbohydrate concentration |
| HP:0011021 | Abnormal circulating enzyme concentration |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0003110 | Abnormality of urine homeostasis |
