Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a condition that prevents the body from converting certain fats into energy. Signs and symptoms of SCAD deficiency may appear during infancy or early childhood and can include vomiting, low blood sugar, a lack of energy, poor feeding, and failure to gain weight and grow at the expected rate. Other features of this disorder may include poor muscle tone, seizures, developmental delay, and a small head size. Mutations in the ACADS gene cause SCAD deficiency. This gene provides instructions for making an enzyme called short-chain acyl-CoA dehydrogenase, which is required to break down a group of fats called short-chain fatty acids. Fatty acids are a major source of energy for the heart, muscles, liver and other tissues.
Mutations in the ACADS gene lead to a deficiency of the SCAD enzyme within cells. Without sufficient amounts of this enzyme, short-chain fatty acids are not metabolized properly. As a result, these fats are not converted into energy, which can lead to the signs and symptoms of this disorder. This condition is inherited in an autosomal recessive pattern, which means 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.
Methodology: Sequencing analysis
Purpose: Confirmation of Clinical Diagnosis
ICD-10 Code E71.312
Test Requisition: Sequencing Requisition
CPT Codes: 81405 Cost: $803.00
Turn-around-time: 14 days
Bhala A, et al. (1995). "Clinical and biochemical characterization of short-chain acyl-coenzyme A dehydrogenase deficiency". J Pediatr. 126(6):910-5.