Overview
Hydroxykynureninuria is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormality of tryptophan metabolism
Always present (100%)HP:0004365
Elevated urinary 3-hydroxykynurenine level
Always present (100%)HP:6000265
Elevated urinary xanthurenic acid level
Always present (100%)HP:6000121
Encephalopathy
Always present (100%)HP:0001298
Vomiting
Always present (100%)HP:0002013
Yellowing of the skin
Always present (100%)HP:0000952
Bilateral congenital sensorineural deafness
Frequent (30-79%)HP:0008527
Breathing dysregulation
Frequent (30-79%)HP:0005957
Dry skin
Frequent (30-79%)HP:0000958
Elevated heart rate
Frequent (30-79%)HP:0001649
Gingivostomatitis
Frequent (30-79%)HP:0010280
Headache
Frequent (30-79%)HP:0002315
Hypotension
Frequent (30-79%)HP:0002615
Mental and motor retardation
Frequent (30-79%)HP:0001263
Metabolic acidosis
Frequent (30-79%)HP:0001942
Nonprogressive mental retardation
Frequent (30-79%)HP:0001249
Renal tubular acidosis
Frequent (30-79%)HP:0001947
Repetitive behaviour Stereotypic behaviour
Frequent (30-79%)HP:0000733
Spasticity and rigidity of muscles
Frequent (30-79%)HP:0001276
Unconsciousness
Occasional (5-29%)HP:0001259
Related Conditions
Quick Facts
- SNOMED CT
- 33116002
- UMLS CUI
- C0268474
- Fully Specified Name
- Hydroxykynureninuria (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 20
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.