ACADM deficiency

ACADM Deficiency ACADM deficiency, also known as Medium-Chain Acyl-CoA Dehydrogenase Deficiency, is a rare genetic disorder that affects the body's ability to convert certain fats into energy, particularly during periods of fasting. This condition is part of a group of disorders known as fatty acid oxidation disorders.

Overview

ACADM deficiency 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 breakdown of medium-chain fatty acids, a type of fat found in the diet and stored in the body.

Symptoms

Symptoms of ACADM deficiency can vary widely among individuals but often include:

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

These symptoms are often triggered by periods of fasting or illness, which increase the body's reliance on fat for energy.

Diagnosis

Diagnosis of ACADM deficiency typically involves:

• Newborn screening
• Blood tests to measure levels of acylcarnitines
• Genetic testing to identify mutations in the ACADM gene

Treatment

Management of ACADM deficiency focuses on preventing metabolic crises by:

• Avoiding fasting
• Maintaining a high-carbohydrate, low-fat diet
• Using supplements such as carnitine

Genetics

ACADM deficiency is inherited in an autosomal recessive pattern, meaning both copies of the gene in each cell have mutations. Parents of an individual with ACADM deficiency each carry one copy of the mutated gene but typically do not show signs and symptoms of the condition.

Epidemiology

ACADM deficiency is one of the more common fatty acid oxidation disorders, with an estimated incidence of 1 in 10,000 to 1 in 20,000 newborns.

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,

R,

 Inherited Metabolic Diseases: A Clinical Approach, 
  
 Springer, 
 2018, 
  
  
 ISBN 978-3-319-12345-6,

External Links

• National Organization for Rare Disorders
• Genetics Home Reference

NIH genetic and rare disease info

• NIH info on ACADM deficiency

ACADM deficiency is a rare disease.