Search results
Results from the WOW.Com Content Network
proteins. Methylmalonyl-CoA mutase is a mitochondrial homodimer apoenzyme (EC. 5. 4.99.2) that focuses on the catalysis of methylmalonyl CoA to succinyl CoA. The enzyme is bound to adenosylcobalamin, a hormonal derivative of vitamin B12 in order to function. Methylmalonyl-CoA mutase deficiency[2] is caused by genetic defect in the MUT [3] gene ...
Threonine (symbol Thr or T) [2] is an amino acid that is used in the biosynthesis of proteins.It contains an α-amino group (which is in the protonated −NH + 3 form when dissolved in water), a carboxyl group (which is in the deprotonated −COO − form when dissolved in water), and a side chain containing a hydroxyl group, making it a polar, uncharged amino acid.
MT-TT mutations result in complex IV deficiency of the mitochondrial respiratory chain, also known as the cytochrome c oxidase deficiency. Cytochrome c oxidase deficiency is a rare genetic condition that can affect multiple parts of the body, including skeletal muscles, the heart, the brain, or the liver.
Essential amino acid. An essential amino acid, or indispensable amino acid, is an amino acid that cannot be synthesized from scratch by the organism fast enough to supply its demand, and must therefore come from the diet. Of the 21 amino acids common to all life forms, the nine amino acids humans cannot synthesize are valine, isoleucine ...
Tuftsin deficiency can be hereditary [1] or can occur following splenectomy, resulting in increased susceptibility to certain diseases e.g.: infected eczematous dermatitis with draining lymph nodes, otitis and sinusitis. Acquired tuftsin deficiency can occur in granulocyte leukemia, when blood neutrophils failed to show stimulation with ...
Propionic acidemia. Propionic acidemia, also known as propionic aciduria or propionyl-CoA carboxylase deficiency (PCC deficiency), [1] is a rare autosomal recessive metabolic disorder, classified as a branched-chain organic acidemia. [2][3] The disorder presents in the early neonatal period with poor feeding, vomiting, lethargy, and lack of ...
Hartnup disease has an autosomal recessive pattern of inheritance.. Hartnup disease (also known as "pellagra-like dermatosis" [1] and "Hartnup disorder" [2]) is an autosomal recessive [3] metabolic disorder affecting the absorption of nonpolar amino acids (particularly tryptophan that can be, in turn, converted into serotonin, melatonin, and niacin).
Methylmalonic acidemia has an autosomal recessive pattern of inheritance.. Methylmalonic acidemias have an autosomal recessive inheritance pattern, which means the defective gene is located on an autosome, and two copies of the gene—one from each parent—must be inherited to be affected by the disorder.