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Start free with EleplanPyruvate dehydrogenase E3-binding protein deficiency
ORPHA:255182Clinical subtype
Also called 2-oxoglutarate complex deficiency · Branched chain alpha-ketoacid dehydrogenase complex deficiency · Diaphorase deficiency · Dihydrolipoyl dehydrogenase deficiency · Glycine cleavage system L protein deficiency · Lipoamide dehydrogenase deficiency · Pyruvate dehydrogenase complex component E3 deficiency · Pyruvate dehydrogenase protein X component deficiency
What it is
Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction.
Key facts
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Clinical subtype
Recorded for the broader condition
- Prevalence
- <1 / 1 000 000 (Europe)Pyruvate dehydrogenase deficiency
Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.
Signs and symptoms
Very common80–99%
3Common30–79%
7These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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