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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

GARD:418

ICD10CM:E74.8

MEDDRA:10064170

MESH:C536652

OMIM:260800

ORDO:2843

SNOMEDCT_US_2019_09_01:190764000

UMLS_CUI:C0268162

Synonyms

essential pentosuria [EXACT]

L-xylulose reductase deficiency [EXACT]

L-xylulosuria [EXACT]

PNTSU [EXACT]

xylitol dehydrogenase deficiency [EXACT]

Parent Relationships

is_a amino acid metabolic disorder

is_a autosomal recessive disease

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