WHO-ICD-10 version:2010
Endocrine, nutritional and metabolic diseases
Metabolic disorders
Mode of Inheritance
Autosomal recessive
Short-chain acyl CoA deficiency (SCAD) is an autosomal recessive disorder of fatty acid beta-oxidation. Affected individuals can have variable presentations ranging from acidosis and neurological impairment to merely myopathy. Some patients may have vomiting, hypoglycemia and microcephaly. The symptoms may be triggered by viral infections and may present in adulthood. Management includes avoidance of fasting, following a special diet, which is low in fat and high in carbohydrates. Medications include L-carnitine and Riboflavin.
Mutations in the ACADS gene lead to SCAD deficiency. ACADS gene is located on the long arm of chromosome 12 and it encodes short-chain acyl CoA dehydrogenase, which metabolize short chain fatty acids. Mutations in this gene affect the production of short-chain acyl CoA dehydrogenase and consequently result in the impairment of fatty acid metabolism.