Medium chain acyl CoA dehydrogenase deficiency

Medium Chain Acyl-CoA Dehydrogenase Deficiency Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) is a rare genetic disorder that affects the body's ability to break down medium-chain fatty acids into energy. This condition is part of a group of disorders known as fatty acid oxidation disorders.

Overview

MCADD is caused by mutations in the ACADM gene, which provides instructions for making an enzyme called medium-chain acyl-CoA dehydrogenase. This enzyme is essential for the oxidation of medium-chain fatty acids, a crucial step in the process of converting fat into energy, especially during periods of fasting.

Symptoms

Symptoms of MCADD typically appear in infancy or early childhood and can include:

• Hypoglycemia (low blood sugar)
• Lethargy
• Vomiting
• Seizures
• Coma

If untreated, MCADD can lead to serious complications such as liver problems, brain damage, or even sudden death.

Diagnosis

MCADD is often diagnosed through newborn screening programs, which test for elevated levels of certain metabolites in the blood. Confirmatory testing involves genetic testing to identify mutations in the ACADM gene.

Treatment

Management of MCADD involves:

• Avoiding fasting
• Maintaining a regular feeding schedule
• Providing a high-carbohydrate, low-fat diet
• Supplementing with carnitine in some cases

Genetics

MCADD is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder.

Epidemiology

MCADD is one of the more common fatty acid oxidation disorders, with an estimated incidence of 1 in 10,000 to 1 in 20,000 live births in the United States.

See Also

• Fatty acid oxidation disorders
• Hypoglycemia
• Genetic testing

,

 Medium Chain Acyl-CoA Dehydrogenase Deficiency: A Review, 
 Journal of Rare Diseases, 
 2020, 
 Vol. 15(Issue: 3), 
 pp. 123-130,

Emily,

 Inherited Metabolic Disorders, 
  
 New York:Medical Press, 
 2018,

External Links

• National Organization for Rare Disorders
• Genetics Home Reference

NIH genetic and rare disease info

• NIH info on Medium chain acyl CoA dehydrogenase deficiency

Medium chain acyl CoA dehydrogenase deficiency is a rare disease.