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BCKDK deficit disease symptoms may include autism, intellectual disability and developmental delay. R.Constante, Juliana et al. reported a list of symptoms in a study of 20 cases. [ 1 ] Those symptoms included: neurodevelopmental delay , gross motor function impairment , intellectual disability , language impairment , epilepsy and clumsiness ...
Deficiency of BCKDK, first described in 2012, [11] is a disorder that could be considered as the "opposite" of maple syrup disease, because patients have decreased levels of branched-chain amino acids, instead of increased levels. The condition may present as autism with epileptiform abnormalities on EEG and seizures.
Beta-ketothiolase deficiency is a rare, autosomal recessive metabolic disorder in which the body cannot properly process the amino acid isoleucine or the products of lipid breakdown. [ 1 ] [ 2 ] Along with SCOT deficiency , it belongs to a group of disorders called ketone utilisation disorders.
"Ketoglutaric acid" and "ketoglutarate", when not qualified as α or β, almost always refers respectively to α-ketoglutaric acid or α-ketoglutarate. [2] α-Ketoglutarate is an intermediate in the citric acid cycle, a cycle that supplies the energy to cells. [2] It is also an intermediate in or product of several other metabolic pathways.
Alpers disease; Alpha 1-antitrypsin deficiency; Alpha-2 deficient collagen disease; Alpha-ketoglutarate dehydrogenase deficiency; Alpha-L-iduronidase deficiency; Alpha-mannosidosis; Alpha-sarcoglycanopathy; Alpha-thalassemia; Alpha thalassemia abnormal morphogenesis; Alpha-thalassemia mental retardation syndrome; Alport syndrome. Alport ...
Fat mass and obesity-associated protein, also known as alpha-ketoglutarate-dependent dioxygenase FTO, is an enzyme that in humans is encoded by the FTO gene located on chromosome 16. As one homolog in the AlkB family proteins, it is the first messenger RNA (mRNA) demethylase that has been identified. [ 5 ]
Deficiency in N-acetylglutamate synthase or a genetic mutation in the gene coding for the enzyme will lead to urea cycle failure in which ammonia is not converted to urea, but rather accumulated in blood leading to the condition called type I hyperammonemia. This is a severe neonatal disorder with fatal consequences, if not detected immediately ...
Procollagen-proline dioxygenase, commonly known as prolyl hydroxylase, is a member of the class of enzymes known as alpha-ketoglutarate-dependent hydroxylases.These enzymes catalyze the incorporation of oxygen into organic substrates through a mechanism that requires alpha-Ketoglutaric acid, Fe 2+, and ascorbate.