Traits

Traits linked to CPT1A

carnitine palmitoyltransferase 1A

The Human Phenotype Ontology links 35 traits to CPT1A, by body system: features seen in people with one of the gene's rare conditions.

Laboratory abnormality

Trait	How often it is seen
Elevated circulating alanine aminotransferase concentration	Always
Elevated circulating aspartate aminotransferase concentration	Always
Elevated urinary dicarboxylic acid level	Always
Hypoketotic hypoglycemia	Always
High liver enzymes	Very often (80–99%)
Laboratory abnormality	Very often (80–99%)
Low blood sugar	Very often (80–99%)
Transient hyperlipidemia	Often (30–79%)
Accumulation of acid in body due to kidney problem	Sometimes (5–29%)
Elevated blood creatine phosphokinase	Not recorded
Fatty infiltration of liver	Not recorded
High blood ammonia levels	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Decreased reflex response	Always
Lethargy	Always
Motor delay	Always
Recurrent encephalopathy	Always
Abnormal speech pattern	Very often (80–99%)
Behavioral abnormality	Very often (80–99%)
Diminished deep tendon reflex	Very often (80–99%)
Epilepsy	Very often (80–99%)
Coma	Often (30–79%)
Loss of consciousness	Often (30–79%)
Paralysis or weakness of one side of body	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal heart rate	Sometimes (5–29%)
Enlarged and thickened heart muscle	Sometimes (5–29%)
Sudden cardiac death	Sometimes (5–29%)
Enlarged heart	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Diarrhea	Always
Enlarged liver	Always
Feeding difficulties	Always
Liver failure	Very often (80–99%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always
Muscle degeneration	Very often (80–99%)
Generalized decreased muscle tone	Not recorded

Constitutional symptom

Trait	How often it is seen
Fatigue	Very often (80–99%)

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 CPT1A and how often each is seen. Find out more at hpo.jax.org.

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test