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Gene Reviews

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.

Over 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 from newborn blood.

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

Specimen Requirements

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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.



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Genetics Laboratory
University of Oklahoma Health Sciences Center
1122 NE 13 Street, Suite 1400, Oklahoma City, OK 73104
Phone: (405) 271-3589 |Fax: (405) 271-7117 Email: Dr. Shibo Li

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