Pyruvate dehydrogenase E1-beta deficiency
MeSH: C566729ORPHA: 255138
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 E1-beta deficiency, sourced from HPO and Orphanet clinical annotations.
HypotoniaAgenesis of corpus callosumAbnormal facial shapeAbnormal calvaria morphologyDecreased activity of the pyruvate dehydrogenase complexLactic acidosisDecreased body weightNeurodevelopmental delaySeizureAtaxiaPachygyriaReduced tendon reflexesCerebellar hypoplasiaIntrauterine growth retardationHypoplasia of the corpus callosumVentriculomegalyHypoplasia of the brainstemPeriventricular leukomalaciaCorticospinal tract hypoplasiaPeriventricular cystsPeriventricular heterotopiaImpaired smooth pursuitShort corpus callosum
Classification & Codes
MeSH Code
C566729Orphanet Code
ORPHA:255138Pyruvate dehydrogenase E1-beta deficiency
| MeSH | C566729 |
| Orphanet | ORPHA:255138 |
| Treatments | 0 drug(s) |
| Symptoms on record | 23 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO