SCADH deficiency

=SCADH Deficiency = SCADH Deficiency (Short-Chain Acyl-CoA Dehydrogenase Deficiency) is a rare metabolic disorder that affects the body's ability to break down certain fats. This condition is part of a group of disorders known as fatty acid oxidation disorders.

Overview

SCADH deficiency is caused by mutations in the ACADS gene, which provides instructions for making an enzyme called short-chain acyl-CoA dehydrogenase. This enzyme is involved in the breakdown of short-chain fatty acids, which are a source of energy for the body. When this enzyme is deficient or not functioning properly, it leads to an accumulation of fatty acids and related compounds, which can be toxic.

Symptoms

The symptoms of SCADH deficiency can vary widely among individuals. Some people with this condition may remain asymptomatic, while others may experience:

• Muscle weakness
• Hypoglycemia (low blood sugar)
• Lethargy
• Vomiting
• Developmental delays

Diagnosis

Diagnosis of SCADH deficiency typically involves:

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

Treatment

There is no specific cure for SCADH deficiency, but management strategies include:

• Dietary modifications to avoid fasting and ensure adequate caloric intake
• Supplementation with carnitine, which helps in the transport of fatty acids
• Monitoring for and managing metabolic crises

Genetics

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

Related Conditions

SCADH deficiency is one of several acyl-CoA dehydrogenase deficiencies, which also include:

• MCAD deficiency
• VLCAD deficiency
• LCHAD deficiency

Research and Future Directions

Ongoing research is focused on better understanding the genetic and biochemical basis of SCADH deficiency, as well as developing improved diagnostic and treatment options. Gene therapy and enzyme replacement therapy are potential future treatments under investigation.

External Resources

• National Institutes of Health - SCAD Deficiency
• Orphanet - SCAD Deficiency

See Also

• Fatty acid oxidation disorders
• Metabolic disorders

NIH genetic and rare disease info

• NIH info on SCADH deficiency

SCADH deficiency is a rare disease.