Traits

Traits linked to ACADM

acyl-CoA dehydrogenase medium chain

The Human Phenotype Ontology links 47 traits to ACADM, by body system: features seen in people with one of the gene's rare conditions.

Laboratory abnormality

Trait	How often it is seen
Elevated urinary 7-hydroxyoctanoic acid level	Always
Metabolic acidosis	Always
Reduced tissue medium-chain acyl-CoA dehydrogenase activity	Always
Elevated urinary dicarboxylic acid level	Often (30–79%)
High blood ammonia levels	Often (30–79%)
Abnormal circulating lactate dehydrogenase concentration	Sometimes (5–29%)
Elevated blood creatine phosphokinase	Sometimes (5–29%)
Elevated urinary 3-hydroxybutyric acid	Sometimes (5–29%)
Fatty infiltration of liver	Sometimes (5–29%)
High levels of ketone bodies	Sometimes (5–29%)
High liver enzymes	Sometimes (5–29%)
Low blood sugar	Sometimes (5–29%)
Brain swelling	Not recorded
High urine glycine levels	Not recorded
Medium chain dicarboxylic aciduria	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Diminished deep tendon reflex	Often (30–79%)
Ataxia	Sometimes (5–29%)
Coma	Sometimes (5–29%)
Delayed speech and language development	Sometimes (5–29%)
Febrile seizure (within the age range of 3 months to 6 years)	Sometimes (5–29%)
Grand mal seizures	Sometimes (5–29%)
Lethargy	Sometimes (5–29%)
Loss of consciousness	Sometimes (5–29%)
Epilepsy	Not recorded
Global developmental delay	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Fatigable weakness	Often (30–79%)
Fatigable weakness of neck muscles	Often (30–79%)
Low muscle tone	Often (30–79%)
Proximal neurogenic muscle weakness	Often (30–79%)
Distal arthrogryposis	Sometimes (5–29%)
Muscle degeneration	Sometimes (5–29%)
Muscle spasm	Sometimes (5–29%)
Muscle tissue disease	Sometimes (5–29%)
Generalized decreased muscle tone	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Decreased liver function	Often (30–79%)
Enlarged liver	Often (30–79%)
Vomiting	Often (30–79%)
Diarrhea	Sometimes (5–29%)

Abnormal cellular phenotype

Trait	How often it is seen
Decreased plasma total carnitine	Often (30–79%)
Carnitine deficiency	Not recorded

Abnormality of the cardiovascular system

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

Constitutional symptom

Trait	How often it is seen
Exercise-induced muscle pain	Often (30–79%)
Fatigue	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Big calvaria	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Exertional breathlessness	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Wasting syndrome	Sometimes (5–29%)

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

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