FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term pentosuria ID (Ontology) DOID:0111258 (Human Disease)
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.
Also Known As "essential pentosuria" ; "L-xylulose reductase deficiency" ; "L-xylulosuria" (for all, see Synonyms field below)
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
    Results list data from multiple species. Click on a button above and use the 'Filter by species' options on the resulting HitList to retrieve species-specific data.
Records annotated with this exact term (annotations to child terms are NOT included)
No relevant records available
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
 Full annotation statements 
Relevant FlyBase reports
 Genes
 pentosuria       1
 for disease ribbon | pentosuria       1
 model of | pentosuria       1
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal recessive disease____
inherited metabolic disorder       |
 |__amino acid metabolic disorder__|
                                   pentosuria  1 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a autosomal recessive disease
amino acid metabolic disorder
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "essential pentosuria" EXACT
    "L-xylulose reductase deficiency" EXACT
    "L-xylulosuria" EXACT
    "PNTSU" EXACT OMO:0003012
    "xylitol dehydrogenase deficiency" EXACT
Secondary IDs
hide External Crossreferences & Linkouts
GARD:418
ICD10CM:E74.89
MEDDRA:10064170
MESH:C536652
MIM:260800
ORDO:2843
SNOMEDCT_US_2023_03_01:190764000
UMLS_CUI:C0268162