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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.
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 ...
Problems related to 3-hydroxyacyl-coenzyme A dehydrogenase deficiency can be triggered by periods of fasting or by illnesses such as viral infections. This disorder is sometimes mistaken for Reye syndrome, a severe disorder that may develop in children while they appear to be recovering from viral infections such as chicken pox or flu. Most ...
The parents of a child with an autosomal recessive disorder both carry one copy of the defective gene, but are usually not affected by the disorder. Malonic aciduria is extremely rare, evidence suggests that it is caused by the abnormality in the protein transcription regulation. [ 3 ]
Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of enzyme activities. [1] The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances into others ().
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 ...
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Avoidance of fasting periods, high-fat diets, and dehydration is recommended for those who are affected. A diet consisting of low-fat intake and supplemental calories is common for management of VLCAD deficiency. If a metabolic crisis is not treated, a child with VLCAD can develop: breathing problems, seizures, coma, sometimes leading to death.