L-xylulose reductase deficiency

disorder

SNOMED 190764000CUI C0268162

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Abnormal urine carbohydrate level

Very frequent (80-99%)HP:0031979

Abnormality of circulating enzyme level

Very frequent (80-99%)HP:0011021

Abnormal circulating carbohydrate concentration

Frequent (30-79%)HP:0011013

Elevated urine L-xylulose level

HP:0025742

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Pentose disorder(parent)

Enzymopathy(parent)

Inborn error of metabolism(parent)

Quick Facts

SNOMED CT: 190764000
UMLS CUI: C0268162
Fully Specified Name: Essential pentosuria (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 4

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.