| Metadata | |
|---|---|
| ID | DOID:0111258 |
| Name | pentosuria |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/22042873 |
| Xrefs |
SNOMEDCT_US_2023_03_01:190764000 |
| Subsets |
DO_rare_slim |
| Synonyms |
essential pentosuria [EXACT] L-xylulose reductase deficiency [EXACT] L-xylulosuria [EXACT] PNTSU [EXACT] xylitol dehydrogenase deficiency [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |