dihydropyrimidine dehydrogenase deficiency
MeSH: D054067ORPHA: 1675
Overview
purine-pyrimidine metabolic disorder that is an autosomal recessive metabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase, an enzyme involved in the metabolism of uracil and thymine
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 dihydropyrimidine dehydrogenase deficiency, sourced from HPO and Orphanet clinical annotations.
Reduced dihydropyrimidine dehydrogenase levelUraciluriaSeizureGlobal developmental delaySpecific learning disabilityEEG abnormalityFloppy infantMultifocal epileptiform dischargesOpen mouthHigh palateMicrocephalyMacrocephalyRetrognathiaHypertelorismAnteverted naresShort neckAbnormality of the eyeMicrocorneaAstigmatismStrabismusDownslanted palpebral fissuresLong eyelashesMyopiaNystagmusDelayed eruption of teethAutistic behaviorIrritabilityMacular hypoplasiaHypertoniaAreflexiaAbsent speechHyperreflexiaShort nailDeep philtrumPoor suckCerebral atrophyProfound intellectual disabilityFebrile seizure (within the age range of 3 months to 6 years)Inability to walkEpiphyseal dysplasiaMicromeliaRespiratory failure requiring assisted ventilationProminent nasal tipDepressed nasal bridgeDeep palmar creaseSevere expressive language delayFeeding difficulties in infancyLarge earlobeFocal motor seizureProminent foreheadSevere global developmental delayAbnormal social behaviorHyperintensity of cerebral white matter on MRIPalpebral thickeningAggressive behavior
Classification & Codes
MeSH Code
D054067Orphanet Code
ORPHA:1675dihydropyrimidine dehydrogenase deficiency
| MeSH | D054067 |
| Orphanet | ORPHA:1675 |
| Treatments | 0 drug(s) |
| Symptoms on record | 55 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO