Traits

Traits linked to ACADVL

acyl-CoA dehydrogenase very long chain

The Human Phenotype Ontology links 62 traits to ACADVL, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the cardiovascular system

Trait	How often it is seen
Enlarged and thickened heart muscle	Always
Enlarged heart	Often (30–79%)
Reduced left ventricular ejection fraction	Often (30–79%)
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)
Patent foramen ovale	Sometimes (5–29%)
Abnormal heart rate	Rarely (1–4%)
Elevated heart rate	Rarely (1–4%)
Fluid around heart	Rarely (1–4%)
Interruption of electrical communication between upper and lower chambers of heart	Rarely (1–4%)
Prolonged QT interval	Rarely (1–4%)
Stretched and thinned heart muscle	Rarely (1–4%)
Ventricular fibrillation	Rarely (1–4%)
Ventricular tachycardia	Rarely (1–4%)
Sudden cardiac death	Not recorded

Laboratory abnormality

Trait	How often it is seen
Fatty infiltration of liver	Always
High blood ammonia levels	Always
Increased circulating free fatty acid level	Often (30–79%)
Elevated blood creatine phosphokinase	Sometimes (5–29%)
High liver enzymes	Sometimes (5–29%)
Hypoketotic hypoglycemia	Sometimes (5–29%)
Hypothermia	Sometimes (5–29%)
Decreased protein levels in blood	Rarely (1–4%)
Low blood calcium levels	Rarely (1–4%)
Metabolic acidosis	Rarely (1–4%)
Diminished tissue very long-chain acyl-CoA dehydrogenase activity	Not recorded
Elevated urinary dicarboxylic acid level	Not recorded
Exercise-induced myoglobinuria	Not recorded
Nonketotic hypoglycemia	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Enlarged liver	Always
Episodic vomiting	Always
Acid reflux	Often (30–79%)
Necrotizing enterocolitis	Often (30–79%)
Periportal fibrosis	Often (30–79%)
Feeding difficulties	Sometimes (5–29%)
Jaundice	Sometimes (5–29%)
Anteriorly placed anus	Rarely (1–4%)
Vomiting	Rarely (1–4%)
Death of liver cells	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always
Exercise-induced rhabdomyolysis	Sometimes (5–29%)
Decreased muscle tone in infant	Rarely (1–4%)
Muscle spasm	Rarely (1–4%)
Muscle stiffness	Not recorded
Muscle weakness	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Breathing cessation	Often (30–79%)
Breathing difficulties	Sometimes (5–29%)
Episodic tachypnea	Sometimes (5–29%)
Increased respiratory rate or depth of breathing	Rarely (1–4%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Often (30–79%)
Big calvaria	Rarely (1–4%)
Enlarged cisterna magna	Rarely (1–4%)

Growth abnormality

Trait	How often it is seen
Overweight	Sometimes (5–29%)
Small for gestational age	Sometimes (5–29%)
Obesity	Rarely (1–4%)

Abnormality of the immune system

Trait	How often it is seen
Inflammatory abnormality of the skin	Rarely (1–4%)
Pneumonia	Rarely (1–4%)

Abnormality of the nervous system

Trait	How often it is seen
Lethargy	Always
Grand mal seizures	Often (30–79%)

Constitutional symptom

Trait	How often it is seen
Pain	Rarely (1–4%)
Exercise-induced muscle pain	Not recorded

Abnormal cellular phenotype

Trait	How often it is seen
Carnitine deficiency	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 ACADVL and how often each is seen. Find out more at hpo.jax.org.

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