Pyruvate dehydrogenase E2 deficiency
MeSH: C565448ORPHA: 79244
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 Pyruvate dehydrogenase E2 deficiency, sourced from HPO and Orphanet clinical annotations.
Gait disturbanceAbnormal circulating enzyme concentration or activityDecreased circulating vitamin B1 concentrationAbnormal CSF pyruvate family amino acid concentrationAbnormality of eye movementRetinal degenerationAbnormality of the nervous systemAtypical behaviorDysarthriaGlobal developmental delayHypertoniaBroad-based gaitNeurodegenerationParoxysmal dystoniaLower limb hyperreflexiaEye of the tiger anomaly of globus pallidusBabinski signPositional foot deformitySevere intellectual disabilityUpgaze palsyDelayed ability to standFrog-leg postureDelayed ability to walkArm dystoniaMicrocephalyStrabismusDementiaAnxietyFunctional motor deficitPeripheral visual field lossSpeech apraxia
Classification & Codes
MeSH Code
C565448Orphanet Code
ORPHA:79244Pyruvate dehydrogenase E2 deficiency
| MeSH | C565448 |
| Orphanet | ORPHA:79244 |
| Treatments | 0 drug(s) |
| Symptoms on record | 31 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO