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Start free with EleplanPyruvate dehydrogenase E1-alpha deficiency
ORPHA:79243Clinical subtype
Also called PDHAD · Pyruvate decarboxylase deficiency · Pyruvate dehydrogenase complex E1 component subunit alpha deficiency
What it is
A disorder that is the most frequent form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction.
Key facts
- Age of onset
- Infancy, Neonatal
- Inheritance
- X-linked dominant
- 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%
4Common30–79%
19- Abnormal facial shape
- Abnormality of brain morphology
- Abnormality of medullary pyramid morphology
- Abnormality of the nervous system
- Bilateral tonic-clonic seizure
- Cerebral atrophy
- Congenital lactic acidosis
- EEG with focal sharp waves
- EEG with focal spikes
- EEG with generalized sharp slow waves
- Gliosis
- Increased circulating pyruvate concentration
- Intellectual disability, profound
- Intrauterine growth retardation
- Lactic acidosis
- Lateral ventricle dilatation
- Low APGAR score
- Seizure
- Ventriculomegaly
Sometimes5–29%
32- Agenesis of corpus callosum
- Ataxia
- Basal ganglia cysts
- Basal ganglia gliosis
- Basal ganglia necrosis
- Blindness
- Cerebellar cyst
- Cerebellar gliosis
and 24 more in this range
These 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.
Genes
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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