Ads
related to: fatty acid deficiency in children causes
Search results
Results From The WOW.Com Content Network
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.
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. [4] Examples include: Mitochondrial trifunctional protein deficiency (MTPD) [3] MCADD, LCHADD ...
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.
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. Low levels of this enzyme halt short-chain fatty acids from being further broken down and processed in the mitochondria, consequently, these short-chain fatty acids are not converted into energy.
Disorders of fatty acid oxidation and mitochondrial metabolism Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) Disorders of porphyrin metabolism acute intermittent porphyria; Disorders of purine or pyrimidine metabolism Lesch–Nyhan syndrome; AMPD1 Deficiency (MADD) Disorders of steroid metabolism lipoid congenital adrenal ...
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.
Examples include glycogen storage diseases, disorders of fatty acid metabolism, and disorders of gluconeogenesis, among several others. [2] [4] Less common genetic causes, such as Russell-Silver syndrome, have also been described. [5] A non-exhaustive list of causes of pathologic ketotic hypoglycemia is listed below: [2] Growth hormone deficiency
Phosphoenolpyruvate carboxykinase deficiency, causes metabolic acidosis and severe hypoglycemia. Disorders of fatty acid oxidation; Medium chain acylCoA dehydrogenase deficiency (MCAD) Familial Leucine sensitive hypoglycemia [4] Accidental ingestions including pharmacy misfills Sulfonylureas, propranolol and others; Ethanol (mouthwash ...