OrphanDrug
OrphanDrug
Pharma Knowledge Base

dihydropyrimidinuria

ORPHA: 38874

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 dihydropyrimidinuria, sourced from HPO and Orphanet clinical annotations.

Intellectual disabilitySeizureUraciluriaElevated urinary dihydrouracil levelElevated urinary dihydrothymine levelElevated urinary thymine levelMicrocephalyMacrocephalyCoarse facial featuresAutismHypotoniaFailure to thriveGrowth delayVomitingGastroesophageal refluxAttention deficit hyperactivity disorderVillous atrophyFeeding difficultiesNeurodevelopmental delayDevelopmental regression

Classification & Codes

Orphanet Code

ORPHA:38874
dihydropyrimidinuria
OrphanetORPHA:38874
Treatments0 drug(s)
Symptoms on record20 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO