Ad
related to: fatty acid deficiency in children mayo clinic
Search results
Results From The WOW.Com Content Network
By-products of fatty acid processing build up in tissues, which also contributes to the signs and symptoms of malonic aciduria. Malonic aciduria is inherited in an autosomal recessive pattern. [ 1 ] This means that the defective gene is located on an autosome (chromosome 16 is an autosome), and two copies of the defective gene - one inherited ...
As a result, these fatty acids are not converted to energy, which can lead to characteristic features of this disorder, such as lethargy and hypoglycemia. Long-chain fatty acids or partially metabolized fatty acids may build up in tissues and damage the liver, heart, retina, and muscles, causing more serious complications.
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.
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 ...
Most individuals with a fatty-acid metabolism disorder are able to live a normal active life with simple adjustments to diet and medications. If left undiagnosed many complications can arise. When in need of glucose the body of a person with a fatty-acid metabolism disorder will still send fats to the liver. The fats are broken down to fatty acids.
Lysosomal acid lipase deficiencies occur when a person has defects (mutations) in both copies of the LIPA gene. Each parent of a person with LAL deficiency carries one copy of the defective LIPA gene. With every pregnancy, parents with a son or daughter affected by LAL deficiency have a 1 in 4 (25%) chance of having another affected child.
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.
Malonyl-CoA also plays an important role inside the mitochondria, where it is an intermediary between fatty acids and acetyl-CoA, which will be a reserve for the Krebs cycle. Cytoplasmic MCD is thought to play a role in the regulation of cytoplasmic malonyl-CoA abundance and, therefore, of mitochondrial fatty acid uptake and oxidation. [9]