MCADH deficiency

MCADH Deficiency MCADH 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

MCADH 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 MCADH deficiency typically appear in infancy or early childhood and can include:

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

In some cases, the condition can lead to serious complications such as liver dysfunction, brain damage, or sudden death.

Diagnosis

Diagnosis of MCADH deficiency is often made through newborn screening programs, which test for elevated levels of certain metabolites in the blood. Confirmatory tests include:

• Genetic testing for mutations in the ACADM gene
• Measurement of enzyme activity in cultured fibroblasts or other tissues

Treatment

Management of MCADH deficiency involves:

• Avoiding fasting
• Maintaining a regular feeding schedule, especially in infants and young children
• Providing a diet high in carbohydrates and low in medium-chain fats
• Supplementing with carnitine, which helps in the transport of fatty acids

Prognosis

With early diagnosis and proper management, individuals with MCADH deficiency can lead healthy lives. However, unrecognized or untreated cases can result in severe metabolic crises.

Genetics

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

Related Conditions

MCADH deficiency is one of several fatty acid oxidation disorders. Other related conditions include:

• VLCAD deficiency
• LCHAD deficiency
• SCAD deficiency

Research

Ongoing research aims to improve the understanding of MCADH deficiency and develop new treatments. Areas of interest include:

• Gene therapy
• Enzyme replacement therapy
• Improved dietary management strategies

External Links

• [Genetics Home Reference on MCADH Deficiency](https://ghr.nlm.nih.gov/condition/medium-chain-acyl-coa-dehydrogenase-deficiency)
• [National Organization for Rare Disorders (NORD) on MCADH Deficiency](https://rarediseases.org/rare-diseases/medium-chain-acyl-coa-dehydrogenase-deficiency/)

NIH genetic and rare disease info

• NIH info on MCADH deficiency

MCADH deficiency is a rare disease.