pyruvate dehydrogenase E3 deficiency
Findings
No curated finding names pyruvate dehydrogenase E3 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease.
Definition from the Mondo Disease Ontology (MONDO:0009529), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Death in childhood
HPO, annotations 2026-09-02
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.
- DystoniaHPOHP:0001332
- 1 of 1 reported patient
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- Increased circulating pyruvate concentrationHPOHP:0003542
- 1 of 1 reported patient
- Increased CSF isoleucine concentrationHPOHP:0500193
- 1 of 1 reported patient
- Increased CSF leucine concentrationHPOHP:0500191
- 1 of 1 reported patient
Show the remaining 23
- VomitingHPOHP:0002013
- Very frequent (80% to 99% of cases)
- Elevated circulating branched-chain amino acid concentrationHPOHP:0008344
- Frequent (30% to 79% of cases)
- Feeding difficultiesHPOHP:0011968
- Frequent (30% to 79% of cases)
- Hepatic encephalopathyHPOHP:0002480
- Frequent (30% to 79% of cases)
- HepatomegalyHPOHP:0002240
- Frequent (30% to 79% of cases)
- HypercoagulabilityHPOHP:0100724
- 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.
- DLDHGNC:2898
- Definitive · ClinGen · Autosomal recessive · 2019
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2015
- Definitive · Natera · Autosomal recessive · 2022
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: pyruvate dehydrogenase E3 deficiency
- Also called
- dihydrolipoamide dehydrogenase deficiencyDLD deficiencyE3-deficient maple syrup urine disease