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( MCAD ) Deficiency
Overview:
Two main types of fat are found in the body: triglycerides and waxes.
The fatty acids are broken down in stages by the successive removal of
molecules of acetyl-coenzyme A, which contains 2 carbon atoms. Ultimately,
under normal conditions, the fatty acids are converted into carbon dioxide
and water with the liberation of energy during this process. Once a fatty acid
molecule is "activated" (attached to coenzyme A), a series of four reactions,
each catalyzed by a different enzyme, is required to remove each acetyl-
coenzyme A molecule. As the first step involves removal of hydrogen atoms
(i.e. an oxidation) from an acyl group, the enzyme complex is known as an
acyl dehydrogenase. Different enzymes are required to hold fatty acids of
different lengths, and the deficiencies connected with these various proteins
are:
United States
approximately 1 in every 8500 live births.
International
The average incidence rate among more than 8 million babies was 1 per
14,600 live births, with a range of 1 per 13,500 to 1 per 15,900.(2)
Symptoms:
Diagnosis:
The oxidation of fatty acids occurs within mitochondria. Fatty acids from
the cytoplasm are attached to a molecule called carnitine to transport
them across the mitochondrial membrane. The combination of carnitine
with a fatty acid is known as acyl carnitine. In individuals with MCAD
deficiency, there is an increase in the concentration of medium-chain acyl
carnitines in the cytoplasm of their cells; these acyl carnitines leak into the
blood stream. The presence of these acyl carnitines, especially octanoyl-
carnitine, is a major diagnostic characteristic of MCAD deficiency. (1)
Risk factors include finding fatty infiltration of the liver, family history of
sudden death, Reye's Syndrome, myopathy, and decreased caloric intake
before death. All siblings of individuals with MCAD should be tested even if
they are without symptoms. (4)
Treatment:
(1)
Wikipedia.http://en.wikipedia.org/wiki/Medium_chain_acyl_dehydrogenase_defic
iency
(2)
Emedicine. http://emedicine.medscape.com/article/946755-overview
(3)
MCAD: Medium Chain acyl CoA Dehydrogenase - Information for Clinicians
Charles R. Roe, MD. http://www.fodsupport.org/mcad.htm
(4)
Public Health and Genetics Information Series.
http://www.hgen.pitt.edu/counseling/public_health/mcad.htm