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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.
Typically, initial signs and symptoms of this disorder occur during infancy and include low blood sugar (hypoglycemia), lack of energy , and muscle weakness. There is also a high risk of complications such as liver abnormalities and life-threatening heart problems. Symptoms that begin later in childhood, adolescence, or adulthood tend to be ...
In addition to the fetal complications, they can also cause complications for the mother during pregnancy. [4] Examples include: Mitochondrial trifunctional protein deficiency (MTPD) [3] MCADD, LCHADD, and VLCADD [5] Schematic demonstrating mitochondrial fatty acid beta-oxidation and effects of LCHAD deficiency
Signs and symptoms [ edit ] Because of the enormous number of these diseases and the numerous systems negatively impacted, nearly every "presenting complaint" to a healthcare provider may have a congenital metabolic disease as a possible cause, especially in childhood and adolescence.
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 ...
Chromosome 12. SCADD is caused genetically by mutations in the ACADS gene, located on chromosome 12q22-qter. [8] Mutations in the ACADS gene lead to inadequate levels of short-chain acyl-CoA dehydrogenase, which is important for breaking down short-chain fatty acids.
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
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 ...