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Pyruvate dehydrogenase phosphatase deficiency

MeSH: C536258ORPHA: 79246

Contents

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

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 phosphatase deficiency, sourced from HPO and Orphanet clinical annotations.

Decreased activity of the pyruvate dehydrogenase complexNeonatal hypotoniaIncreased circulating lactate concentrationLactic acidosisHyperalaninemiaLacticaciduriaHyperprolinemiaAxial hypotoniaMild global developmental delayFocal hyperintensity of cerebral white matter on MRIBrain imaging abnormality

Classification & Codes

MeSH Code

C536258

Orphanet Code

ORPHA:79246
Pyruvate dehydrogenase phosphatase deficiency
MeSHC536258
OrphanetORPHA:79246
Treatments0 drug(s)
Symptoms on record11 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO