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Living with Medium-chain acyl-coenzyme A dehydrogenase deficiency

An inherited condition in which the body cannot turn certain fats into energy, especially when fasting or sick.

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Understanding Medium-chain acyl-coenzyme A dehydrogenase deficiency

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is an inherited condition that prevents the body from converting certain fats into energy.

Problems are especially likely during fasting or illness, such as viral infections. Signs usually show up in infancy or early childhood. They include vomiting, low energy, and low blood sugar. Rarely it is not found until adulthood. GARD notes it is sometimes mistaken for Reye syndrome.

Signs & symptoms

Symptoms vary from person to person. GARD lists these among the most common:

  • Vomiting
  • Low energy and weakness
  • Low blood sugar (hypoglycemia)
  • Enlarged liver
  • Low muscle tone
  • Muscle pain with exercise

Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.

Diagnosis

  1. Talk with your doctor

    Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.

  2. See a specialist

    Specialists who may be involved include genetic specialists.

  3. Consider genetic testing

    Changes in ACADM are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.

  4. Connect with expert centers

    United Mitochondrial Disease Foundation and MitoAction may keep lists of experts for this condition.

Care & treatment

Care team
Genetic specialists (geneticists)
Expert care
Expert lists: United Mitochondrial Disease Foundation, MitoAction
Treatment
GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
Research
Clinical trials and observational studies may be options. See the research section below.

General information, not medical advice. Your care team makes the decisions.

Everyday life

Living with a rare condition is easier with support.

  • Connect with United Mitochondrial Disease Foundation and other patient organizations
  • Keep notes on symptoms, changes and questions for appointments
  • Ask about patient registries that help research
  • Look into financial aid and travel resources for care visits
Bring these questions to your next doctor visit
How long can my child safely go without eating?
What should we do when my child is sick?
Should family members have ACADM genetic testing?

Quick facts

Symptoms usually startNewborn and as an Infant
InheritanceAutosomal Recessive
GenesACADM

Changes in the ACADM gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.

GeneticInherited Metabolic

Also known as: acadm (acyl-coa dehydrogenase medium chain) deficiency; acadm deficiency; acadm-gene related medium-chain acyl-coenzyme a dehydrogenase deficiency; acadmd; acyl-coa dehydrogenase, medium chain, deficiency of; acyl-coa dehydrogenase, medium-chain deficiency

Patient organizations

Source: NIH GARD · Medium-chain acyl-coenzyme A dehydrogenase deficiencyGARD ID 540 · GARD page updated September 2026 · Plain-language summary by Know Rare; editorial review pending. General information, not medical advice.

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Explore research for Medium-chain acyl-coenzyme A dehydrogenase deficiency

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