pyruvate dehydrogenase E2 deficiency
Findings
No curated finding names pyruvate dehydrogenase E2 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood.
Definition from the Mondo Disease Ontology (MONDO:0009502), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
47 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.
- DroolingHPOHP:0002307
- 2 of 2 reported patients
- Abnormal circulating enzyme concentration or activityHPOHP:0012379
- Very frequent (80% to 99% of cases)
- Abnormal CSF pyruvate family amino acid concentrationHPOHP:0500231
- Very frequent (80% to 99% of cases)
- Decreased circulating vitamin B1 concentrationHPOHP:0100503
- Very frequent (80% to 99% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- Very frequent (80% to 99% of cases)
- Abnormality of eye movementHPOHP:0000496
- Frequent (30% to 79% of cases)
Show the remaining 35
- Delayed ability to walkHPOHP:0031936
- Frequent (30% to 79% of cases)
- DysarthriaHPOHP:0001260
- Frequent (30% to 79% of cases)
- Eye of the tiger anomaly of globus pallidusHPOHP:0002454
- Frequent (30% to 79% of cases)
- Frog-leg postureHPOHP:0031139
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
- HypertoniaHPOHP:0001276
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- DLATHGNC:2896
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: pyruvate dehydrogenase E2 deficiency
- Also called
- dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiencydihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiencypyruvate dehydrogenase complex component E2 deficiency