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Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency or MCADD) is a disorder of fatty acid oxidation that impairs the body's ability to break down medium-chain fatty acids into acetyl-CoA. The disorder is characterized by hypoglycemia and sudden death without timely intervention, most often brought on by periods of fasting or vomiting.
The mutation is recessive, and often parents of children who have the deficiency can be diagnosed afterward as carriers. [3] In humans the most common naturally occurring mutation in MCAD is located at amino acid residue Lys-304. [1] The altered residue occurs as a result of a single-point mutation in which the lysine side chain is replaced by ...
The term fatty acid oxidation disorder (FAOD) is sometimes used, especially when there is an emphasis on the oxidation of the fatty acid. [3]In addition to the fetal complications, they can also cause complications for the mother during pregnancy.
ACADM or MCAD, a gene Medium-chain acyl-CoA dehydrogenase, an enzyme used in lipid metabolism; Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCAD deficiency or MCADD), caused by mutations in the ACADM gene; Mast cell activation disorder, a disease; Microsoft Certified Application Developer; Mechanical computer-aided design
Numerous genetic disorders are caused by errors in fatty acid metabolism.These disorders may be described as fatty oxidation disorders or as a lipid storage disorders, and are any one of several inborn errors of metabolism that result from enzyme defects affecting the ability of the body to oxidize fatty acids in order to produce energy within muscles, liver, and other cell types.
ACADM (acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain) is a gene that provides instructions for making an enzyme called acyl-coenzyme A dehydrogenase that is important for breaking down (degrading) a certain group of fats called medium-chain fatty acids.
Very long-chain acyl-coenzyme A dehydrogenase deficiency is a fatty-acid metabolism disorder which prevents the body from converting certain fats to energy, particularly during periods without food. [1] [2] [3] Those affected by this disorder have inadequate levels of an enzyme that breaks down a group of fats called very long-chain fatty acids.
Mast cell activation syndrome (MCAS) is a term referring to one of two types of mast cell activation disorder (MCAD); the other type is idiopathic MCAD. [1] MCAS is an immunological condition in which mast cells, a type of white blood cell, inappropriately and excessively release chemical mediators, such as histamine, resulting in a range of chronic symptoms, sometimes including anaphylaxis or ...
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