ACADS

ACADS (Acyl-CoA Dehydrogenase, C-2 To C-3 Short Chain) is a protein that in humans is encoded by the ACADS gene. This gene encodes a member of the acyl-CoA dehydrogenase family of enzymes (ACADs), which participate in the metabolism of fatty acids by catalyzing the oxidative dehydrogenation of acyl-CoA derivatives.

Function

The encoded protein is a key enzyme in the mitochondrial fatty acid beta-oxidation pathway which catalyzes the dehydrogenation of acyl-CoAs to enoyl-CoAs, preparing them for the next step in the metabolic pathway. It has a preference for short chain acyl-CoAs. Defects in this gene are associated with Short Chain Acyl CoA Dehydrogenase Deficiency (SCADD).

Clinical significance

Mutations in the ACADS gene are associated with SCADD, a condition that prevents the body from converting certain fats into energy, particularly during periods without food. Symptoms can include hypoglycemia, lethargy, and muscle weakness. However, many individuals with SCADD do not have any symptoms.

Diagnosis

Diagnosis of SCADD is typically made through newborn screening tests, which can detect elevated levels of butyrylcarnitine in the blood, a common sign of the condition. Genetic testing can also be used to identify mutations in the ACADS gene.

Treatment

There is currently no cure for SCADD, but management strategies can include a low-fat diet, avoidance of fasting, and in some cases, supplementation with medium-chain triglycerides.

See also

• Acyl-CoA dehydrogenase
• Fatty acid metabolism
• Mitochondrial disease

References

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