Traits

Traits linked to OXCT1

3-oxoacid CoA-transferase 1

The Human Phenotype Ontology links 17 traits to OXCT1, by body system: features seen in people with one of the gene's rare conditions.

Laboratory abnormality

Trait	How often it is seen
Reduced succinyl-CoA:3-oxoacid-CoA transferase activity in cultured fibroblasts	Always
Ketoacidosis	Very often (80–99%)
Increased level of ketone bodies in blood	Often (30–79%)
Ketonuria	Often (30–79%)
Dehydration	Sometimes (5–29%)
Decreased Succinyl-CoA 3-ketoacid CoA transferase activity	Not recorded
Elevated urinary 3-hydroxybutyric acid	Not recorded
Episodic ketoacidosis	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Vomiting	Often (30–79%)
Nausea	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Coma	Sometimes (5–29%)
Lethargy	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Decreased body weight	Sometimes (5–29%)
Faltering weight in infancy	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Enlarged heart	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Increased respiratory rate or depth of breathing	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 OXCT1 and how often each is seen. Find out more at hpo.jax.org.

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