Pyruvate dehydrogenase E3-binding protein deficiency
MeSH: C565447ORPHA: 255182
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 E3-binding protein deficiency, sourced from HPO and Orphanet clinical annotations.
Increased circulating lactate concentrationIncreased CSF lactateAbnormal CSF pyruvate family amino acid concentrationSeizureSpastic diplegiaAbnormal corpus callosum morphologyTetraparesisDecreased activity of the pyruvate dehydrogenase complexLactic acidosisAbnormal circulating pyruvate family amino acid concentrationMicrocephalyGlobal developmental delayAgenesis of corpus callosumFailure to thriveHypoplasia of the corpus callosumVentriculomegalyAbnormal basal ganglia morphologyPeriventricular cystsAxial hypotoniaSevere intellectual disabilityAbnormal cerebellum morphologyCerebral atrophyAbnormal brainstem morphology
Classification & Codes
MeSH Code
C565447Orphanet Code
ORPHA:255182Pyruvate dehydrogenase E3-binding protein deficiency
| MeSH | C565447 |
| Orphanet | ORPHA:255182 |
| Treatments | 0 drug(s) |
| Symptoms on record | 23 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO