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Hyperlysinemia has an autosomal recessive pattern of inheritance. Hyperlysinemia is inherited in an autosomal recessive manner. [2] This means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder.
A deficiency in any of the enzymes of this complex as well as an inhibition of the complex as a whole leads to a buildup of branched-chain amino acids and their harmful derivatives in the body. These accumulations lend a sweet smell to bodily excretions (such as ear wax and urine), leading to a pathology known as maple syrup urine disease. [19]
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 ...
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 ...
"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.
Lysine alpha-ketoglutarate reductase deficiency; Lysinuric protein intolerance; Lysosomal alpha-D-mannosidase deficiency; Lysosomal beta-mannosidase deficiency; Lysosomal glycogen storage disease with normal acid maltase activity; Lysosomal storage disease
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.
Normal α-ketoglutarate does not permeate cell walls efficiently, and it is necessary to create a cell permeating derivative (e.g. α-ketoglutarate esters). In-vitro trials show this supplementation approach can reduce HIF1-α levels, and may result in a therapeutic approach to tumours resulting from SDH deficiency.