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encephalopathy due to hydroxykynureninuria

MeSH: C536081ORPHA: 79155

Contents

  1. 1. Available Treatments
  2. 2. Clinical Presentation
  3. 3. Classification & Codes

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with encephalopathy due to hydroxykynureninuria, sourced from HPO and Orphanet clinical annotations.

EncephalopathyAbnormal circulating tryptophan concentrationMotor stereotypyDry skinIntellectual disabilityGlobal developmental delayHypertoniaTachycardiaMetabolic acidosisRenal tubular acidosisHeadacheHypotensionBreathing dysregulationCongenital sensorineural hearing impairmentStomatitisComa

Classification & Codes

MeSH Code

C536081

Orphanet Code

ORPHA:79155
encephalopathy due to hydroxykynureninuria
MeSHC536081
OrphanetORPHA:79155
Treatments0 drug(s)
Symptoms on record16 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO