pyruvate dehydrogenase E1-beta deficiency
Findings
No curated finding names pyruvate dehydrogenase E1-beta deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by severe lactic acidosis, developmental delay and hypotonia.
Definition from the Mondo Disease Ontology (MONDO:0013580), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
27 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.
- Generalized hypotoniaHPOHP:0001290
- 2 of 2 reported patients
- Lactic acidosisHPOHP:0003128
- 2 of 2 reported patients · Neonatal onset
- Frequent (30% to 79% of cases)
- Abnormal calvaria morphologyHPOHP:0002683
- Frequent (30% to 79% of cases)
- Abnormal facial shapeHPOHP:0001999
- Frequent (30% to 79% of cases)
- Agenesis of corpus callosumHPOHP:0001274
- 1 of 2 reported patients
- Frequent (30% to 79% of cases)
- Decreased activity of the pyruvate dehydrogenase complexHPOHP:0002928
- Frequent (30% to 79% of cases)
Show the remaining 15
- Corticospinal tract hypoplasiaHPOHP:0007016
- Occasional (5% to 29% of cases)
- Diminished deep tendon reflexHPOHP:0001315
- Occasional (5% to 29% of cases)
- Hypoplasia of the brainstemHPOHP:0002365
- Occasional (5% to 29% of cases)
- Hypoplasia of the corpus callosumHPOHP:0002079
- Occasional (5% to 29% of cases)
- Impaired smooth pursuitHPOHP:0007772
- Occasional (5% to 29% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Occasional (5% to 29% 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.
- PDHBHGNC:8808
- Definitive · Natera · Autosomal recessive · 2023
- 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
2 names
Resolves to: pyruvate dehydrogenase E1-beta deficiency
- Also called
- PDHBDpyruvate dehydrogenase complex E1 component subunit beta deficiency