pyruvate decarboxylase deficiency

MeSH: D015325ORPHA: 79243

Contents

1. Overview
2. Available Treatments
3. Clinical Presentation
4. Classification & Codes

Overview

carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex

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 decarboxylase deficiency, sourced from HPO and Orphanet clinical annotations.

Small for gestational ageIncreased circulating lactate concentrationIncreased CSF lactateAbnormal CSF pyruvate family amino acid concentrationAbnormality of the nervous systemSeizureIntrauterine growth retardationAbnormal facial shapeCerebral atrophyBilateral tonic-clonic seizureVentriculomegalyGliosisProfound intellectual disabilityLactic acidosisIncreased circulating pyruvate concentrationCongenital lactic acidosisLateral ventricle dilatationEEG with focal spikesEEG with focal sharp wavesEEG with generalized sharp slow wavesAbnormal brain morphologyAbnormal medullary pyramid morphologyLow APGAR scoreMicrocephalyBlindnessSingle transverse palmar creaseAtaxiaHypotoniaAgenesis of corpus callosumDystoniaPartial agenesis of the corpus callosumFlexion contractureVentricular septal defectPes cavusTalipesGastroesophageal refluxHypoplasia of the corpus callosumRecurrent aspiration pneumoniaPolymicrogyriaDrowsinessCerebellar cystHypsarrhythmiaInability to walkNeonatal respiratory distressRecurrent infectionsBasal ganglia cystsPeriventricular leukomalaciaBasal ganglia gliosisLimb undergrowthIntracranial cystic lesionGastrostomy tube feeding in infancyFeeding difficultiesBasal ganglia necrosisInfantile spasmsCerebellar gliosis

Classification & Codes

MeSH Code

D015325

Orphanet Code

ORPHA:79243

pyruvate decarboxylase deficiency

MeSH	`D015325`
Orphanet	`ORPHA:79243`
Treatments	0 drug(s)
Symptoms on record	55 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO