Traits

Traits linked to PC

pyruvate carboxylase

The Human Phenotype Ontology links 16 traits to PC, 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
Global developmental delay	Always
Epilepsy	Often (30–79%)
Clonus	Sometimes (5–29%)
Involuntary writhing movements in fingers, hands, toes, and feet	Sometimes (5–29%)
Intellectual disability	Not recorded
Leukodystrophy	Not recorded
Neuronal loss in the cerebral cortex	Not recorded
Periventricular leukomalacia	Not recorded

Laboratory abnormality

Trait	How often it is seen
Increased lactate in body	Always
Low blood sugar	Sometimes (5–29%)
Higher than normal levels of lactate in blood	Not recorded
Increased blood alanine	Not recorded
Increased circulating pyruvate concentration	Not recorded
Proximal renal tubular acidosis	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Enlarged liver	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always

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 PC and how often each is seen. Find out more at hpo.jax.org.

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