Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a condition that prevents the body from converting certain fats to energy. Signs and symptoms of MCAD deficiency typically appear during infancy or early childhood and can include vomiting, lack of hypoglycemia. People with MCAD deficiency are at risk for serious complications such as seizures, breathing difficulties, liver problems, brain damage, coma, and sudden death. In the United States, the estimated incidence of MCAD deficiency is 1 in 17,000 people.
Mutations in the ACADM gene cause MCAD deficiency. This gene provides instructions for making an enzyme called medium-chain acyl-CoA dehydrogenase, which is required to metabolize a group of fats called medium-chain fatty acids. These fatty acids are found in foods and the body's fat tissues. Fatty acids are a major source of energy for the heart and muscles and an important energy source for the liver and other tissues. Mutations in the ACADM gene lead to a deficiency of the MCAD enzyme within cells. Without sufficient amounts of this enzyme, medium-chain fatty acids are not metabolized properly. As a result, fatty acids may build up in tissues and damage the liver and brain.
25 MCAD gene variants have been reported. One of these
gene variants, the K304E MCAD mutation, accounts for
the majority of MCAD mutations identified to date. These
mutations can be identified through through sequencing
and therefore can be detected in newborns by DNA analysis
Methodology: Sequencing analysis
Purpose: Confirmation of Clinical Diagnosis
ICD-10 Code E71.311
Test Requisition: Sequencing Requisition
CPT Code: 81479 Cost: $863.00
Turn-around-time: 14 days
1. Hsu HW, Zytkovicz TH, Comeau AM, Strauss AW, Marsden D, Shih VE, Grady GF, Eaton RB. (2008) "Spectrum of medium-chain-acyl-CoA dehydrogenase deficiency detected by newborn screening". Pediatrics. 121(5):e1108-14.