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pyruvate dehydrogenase deficiency

MONDO:0019169Mondo

Findings

No curated finding names pyruvate dehydrogenase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

A rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency.

Definition from the Mondo Disease Ontology (MONDO:0019169), read 2026-09-29. CC BY 4.0.

Features

35 features

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Abnormal facial shapeHPOHP:0001999
- Very frequent (80% to 99% of cases)
Feeding difficulties in infancyHPOHP:0008872
- Very frequent (80% to 99% of cases)
Growth delayHPOHP:0001510
- Very frequent (80% to 99% of cases)
HypotoniaHPOHP:0001252
- Very frequent (80% to 99% of cases)
LethargyHPOHP:0001254
- Very frequent (80% to 99% of cases)
Abnormal pyramidal signHPOHP:0007256
- Frequent (30% to 79% of cases)
Abnormality of eye movement

Show the remaining 23

Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
Intrauterine growth retardationHPOHP:0001511
- Frequent (30% to 79% of cases)
MicrocephalyHPOHP:0000252
- Frequent (30% to 79% of cases)
Osteolytic defects of the middle phalanx of the 4th toeHPOHP:0100453
- Frequent (30% to 79% of cases)
SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
SpasticityHPOHP:0001257
- Frequent (30% to 79% of cases)

Where it sits

A kind of: hereditary peripheral neuropathy
inborn carbohydrate metabolic disorder
inborn mitochondrial metabolism disorder
pyruvate metabolism disorder
Narrower terms (7): lipoic acid synthetase deficiency
pyruvate dehydrogenase E1-alpha deficiency
pyruvate dehydrogenase E1-beta deficiency
pyruvate dehydrogenase E2 deficiency
pyruvate dehydrogenase E3 deficiency
pyruvate dehydrogenase E3-binding protein deficiency
pyruvate dehydrogenase phosphatase deficiency

Other names

4 names

Resolves to: pyruvate dehydrogenase deficiency

Also called: PDHPDHCpyruvate decarboxylase deficiencyPyruvate Dehydrogenase Complex Deficiency