pyruvate carboxylase deficiency disease

MeSH: D015324ORPHA: 3008

Contents

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

Overview

Human disease

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 carboxylase deficiency disease, sourced from HPO and Orphanet clinical annotations.

Abnormal pyramidal signGeneralized clonic seizureDelayed myelinationInfantile spasmsCerebellar gliosisCerebral white matter atrophyAbnormal temper tantrumsDelayed ability to sitTip-toe gaitHyperintensity of cerebral white matter on MRIDyskinesiaComaRecurrent hand flappingIncreased circulating lactate concentrationLactic acidosisElevated lactate:pyruvate ratioSeizureFailure to thriveGrowth delayMetabolic acidosisHyperammonemiaHyperlysinemiaIncreased CSF lactateHyperalaninemiaIncreased circulating pyruvate concentrationLacticaciduriaHyperprolinemiaElevated plasma citrullineIncreased caudate lactate levelElevated brain choline level by MRSElevated brain lactate level by MRSReduced brain N-acetyl aspartate level by MRSNeurodevelopmental delayHyperketonemiaHypoglutaminemiaHyperglutamatemiaHypertaurinemiaDecreased CSF glutamine concentrationIncreased CSF glutamate concentrationAbnormal CSF pyruvate family amino acid concentrationIncreased CSF alanine concentrationIncreased CSF citrulline concentrationNystagmusCompulsive behaviorsApathyReduced eye contactIntellectual disabilityAtaxiaHypotoniaExcessive daytime somnolenceAgenesis of corpus callosumGeneralized hypotoniaDystoniaTremorHypoglycemiaDehydrationVomitingAnorexiaVentriculomegalyHepatomegalySubependymal cystsPoor speechTachypneaAbnormal pattern of respirationHyperglycemiaHypernatremiaNeonatal hyperbilirubinemiaCNS hypomyelinationBasal ganglia gliosisPeriventricular cysts

Classification & Codes

MeSH Code

D015324

Orphanet Code

ORPHA:3008

pyruvate carboxylase deficiency disease

MeSH	`D015324`
Orphanet	`ORPHA:3008`
Treatments	0 drug(s)
Symptoms on record	70 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO