Search results
Results from the WOW.Com Content Network
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.
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.
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 ...
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 ...
The two organs most commonly affected are the liver and the skeletal muscle. Glycogen storage diseases that affect the liver typically cause hepatomegaly and hypoglycemia; those that affect skeletal muscle cause exercise intolerance, progressive weakness and cramping. [1] Glucose-6-phosphate isomerase deficiency affects step 2 of glycolysis.
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.
Thiamine deficiency is also related to malnutrition from poor diet, impaired use of thiamine by the cells and impaired storage in the liver. [25] Without thiamine the Krebs cycle enzymes pyruvate dehydrogenase complex (PDH) and alpha-ketoglutarate dehydrogenase (alpha-KGDH) are impaired. [15]