pentosuria

Term ID

DOID:0111258

Synonyms

• essential pentosuria
• L-xylulose reductase deficiency
• L-xylulosuria
• PNTSU
• 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. https://www.ncbi.nlm.nih.gov/pubmed/22042873

References

• GARD:418
• ICD10CM:E74.89
• MEDDRA:10064170
• MESH:C536652
• OMIM:260800
• ORDO:2843
• SNOMEDCT_US_2023_03_01:190764000
• UMLS_CUI:C0268162

Ontology

Human Disease   ( DOID:0111258 )