Traits

Traits linked to PDHA1

pyruvate dehydrogenase E1 subunit alpha 1

The Human Phenotype Ontology links 86 traits to PDHA1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Cerebral palsy	Always
Clumsiness	Always
Delayed ability to sit	Always
Epilepsy	Always
Focal T2 hyperintense basal ganglia lesion	Always
Global developmental delay	Always
Increased reflexes	Always
Intellectual disability	Always
Irritability	Always
Jerking	Always
Lethargy	Always
Progressive degeneration of movement	Always
Tremor	Always
Abnormal shape of brain	Often (30–79%)
Abnormality of the nervous system	Often (30–79%)
Degeneration of cerebrum	Often (30–79%)
EEG with focal sharp waves	Often (30–79%)
EEG with focal spikes	Often (30–79%)
EEG with generalized sharp slow waves	Often (30–79%)
Gliosis	Often (30–79%)
Grand mal seizures	Often (30–79%)
IQ less than 20	Often (30–79%)
Lateral ventricle dilatation	Often (30–79%)
Ventriculomegaly	Often (30–79%)
Agenesis of corpus callosum	Sometimes (5–29%)
Ataxia	Sometimes (5–29%)
Basal ganglia cysts	Sometimes (5–29%)
Basal ganglia gliosis	Sometimes (5–29%)
Basal ganglia necrosis	Sometimes (5–29%)
Cerebellar cyst	Sometimes (5–29%)
Cerebellar gliosis	Sometimes (5–29%)
Drowsiness	Sometimes (5–29%)
Dystonia	Sometimes (5–29%)
Hypsarrhythmia	Sometimes (5–29%)
Inability to walk	Sometimes (5–29%)
Infantile spasms	Sometimes (5–29%)
Intracranial cystic lesion	Sometimes (5–29%)
More grooves in brain	Sometimes (5–29%)
Partial agenesis of the corpus callosum	Sometimes (5–29%)
Periventricular leukomalacia	Sometimes (5–29%)
Underdevelopment of part of brain called corpus callosum	Sometimes (5–29%)
Choreoathetosis	Not recorded
Episodic ataxia	Not recorded

Laboratory abnormality

Trait	How often it is seen
Higher than normal levels of lactate in blood	Always
Increased blood alanine	Always
Increased circulating pyruvate concentration	Always
Increased CSF lactate	Always
Increased lactate in body	Always
Metabolic acidosis	Always
Abnormal CSF pyruvate family amino acid concentration	Very often (80–99%)
Congenital lactic acidosis	Often (30–79%)
Elevated lactate:pyruvate ratio	Often (30–79%)
Chronic lactic acidosis	Not recorded
Severe lactic acidosis	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormal facial shape	Often (30–79%)
Abnormally small head	Sometimes (5–29%)
Flared nostrils	Not recorded
Frontal bossing	Not recorded
Long philtrum	Not recorded
Nasal tip, upturned	Not recorded
Wide nasal bridge	Not recorded

Abnormality of limbs

Trait	How often it is seen
Lower limb hypertonia	Always
High-arched foot	Sometimes (5–29%)
Limb undergrowth	Sometimes (5–29%)
Single transverse palmar crease	Sometimes (5–29%)
Talipes	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Acid reflux	Sometimes (5–29%)
Feeding difficulties	Sometimes (5–29%)
Gastrostomy tube feeding in infancy	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Blindness	Sometimes (5–29%)
Abnormality of eye movement	Not recorded
Drooping upper eyelid	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Very often (80–99%)
Flexed joint that cannot be straightened	Sometimes (5–29%)
Generalized decreased muscle tone	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory failure	Always
Neonatal respiratory distress	Sometimes (5–29%)
Apneic episodes precipitated by illness, fatigue, stress	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Recurrent aspiration pneumonia	Sometimes (5–29%)
Recurrent infections	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Small for gestational age	Very often (80–99%)
Prenatal growth deficiency	Often (30–79%)

Abnormal cellular phenotype

Trait	How often it is seen
Decreased activity of the pyruvate dehydrogenase complex	Always

Abnormality of prenatal development or birth

Trait	How often it is seen
Low APGAR score	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal medullary pyramid morphology	Often (30–79%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to PDHA1 and how often each is seen. Find out more at hpo.jax.org.

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