pyruvate dehydrogenase E3-binding protein deficiency
Findings
No curated finding names pyruvate dehydrogenase E3-binding protein deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction.
Definition from the Mondo Disease Ontology (MONDO:0009503), read 2026-09-29. CC BY 4.0.
Features
23 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 CSF pyruvate family amino acid concentrationHPOHP:0500231
- Very frequent (80% to 99% of cases)
- Increased circulating lactate concentrationHPOHP:0002151
- Very frequent (80% to 99% of cases)
- Increased CSF lactateHPOHP:0002490
- Very frequent (80% to 99% of cases)
- Abnormal circulating pyruvate family amino acid concentrationHPOHP:0010915
- Frequent (30% to 79% of cases)
- Abnormal corpus callosum morphologyHPOHP:0001273
- Frequent (30% to 79% of cases)
- Decreased activity of the pyruvate dehydrogenase complexHPOHP:0002928
- Frequent (30% to 79% of cases)
- Lactic acidosisHPOHP:0003128
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
- Spastic diplegiaHPOHP:0001264
- Frequent (30% to 79% of cases)
- TetraparesisHPOHP:0002273
- Frequent (30% to 79% of cases)
- Abnormal basal ganglia morphologyHPOHP:0002134
- Occasional (5% to 29% of cases)
- Agenesis of corpus callosumHPOHP:0001274
- Occasional (5% to 29% of cases)
Show the remaining 11
- Axial hypotoniaHPOHP:0008936
- Occasional (5% to 29% of cases)
- Failure to thriveHPOHP:0001508
- Occasional (5% to 29% of cases)
- Global developmental delayHPOHP:0001263
- Occasional (5% to 29% of cases)
- Hypoplasia of the corpus callosumHPOHP:0002079
- Occasional (5% to 29% of cases)
- MicrocephalyHPOHP:0000252
- Occasional (5% to 29% of cases)
- Periventricular cystsHPOHP:0007109
- 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.
- PDHXHGNC:21350
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
9 names
Resolves to: pyruvate dehydrogenase E3-binding protein deficiency
- Also called
- 2-oxoglutarate complex deficiencybranched chain alpha-ketoacid dehydrogenase complex deficiencydiaphorase deficiencydihydrolipoyl dehydrogenase deficiencyGlycine cleavage system L protein deficiencylacticacidemia due to PDX1 deficiencylipoamide dehydrogenase deficiencypyruvate dehydrogenase complex component E3 deficiencypyruvate dehydrogenase protein X component deficiency