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- этимология
Что (кто) такое pyroglutamic acidemia - определение
HUMAN DISEASE
Deficiency of glutathione synthase; Deficiency of glutathione synthetase; 5-oxoprolinemia; 5-oxoprolinuria; Pyroglutamic acidemia; Pyroglutamic aciduria
Glutathione synthetase deficiency
Glutathione synthetase deficiency (GSD) is a rare autosomal recessive metabolic disorder that prevents the production of glutathione. Glutathione helps prevent damage to cells by neutralizing harmful molecules generated during energy production.
Propionic acidemia
ORGANIC ACIDEMIA THAT INVOLES A NONFUNCTIONAL PROPIONYL COA CARBOXYLASE AFFECTING CONVERSION OF AMINIO ACIDS AND FATS INTO SUGAR FOR ENERGY
Acidemia, propionic; Ketotic glycinemia; Propionic aciduria; Propionyl-CoA carboxylase deficiency
Propionic acidemia, also known as propionic aciduria or propionyl-CoA carboxylase deficiency (PCC deficiency), is a rare autosomal recessive metabolic disorder, classified as a branched-chain organic acidemia.
Glutaric aciduria type 1
GLUTARYL-COA DEHYDROGENASE (GCDH) DEFICIENCY (GDD) IS AN AUTOSOMAL RECESSIVE NEUROMETABOLIC DISORDER CLINICALLY CHARACTERIZED BY ENCEPHALOPATHIC CRISES RESULTING IN STRIATAL INJURY AND A SEVERE DYSTONIC DYSKINETIC MOVEMENT DISORDER
Glutaryl-CoA dehydrogenase deficiency; Glutaric acidemia I; Glutaric aciduria I; Glutaric acidemia type I; Glutaric aciduria; Glutaric acidemia type 1; Glutari aciduria; Glutaric acidemia
Glutaric acidemia type 1 (GA1) is an inherited disorder in which the body is unable to completely break down the amino acids lysine, hydroxylysine and tryptophan. Excessive levels of their intermediate breakdown products (glutaric acid, glutaryl-CoA, 3-hydroxyglutaric acid, glutaconic acid) can accumulate and cause damage to the brain (and also other organs), but particularly the basal ganglia, which are regions that help regulate movement.
Википедия
Glutathione synthetase deficiency
Glutathione synthetase deficiency (GSD) is a rare autosomal recessive metabolic disorder that prevents the production of glutathione. Glutathione helps prevent damage to cells by neutralizing harmful molecules generated during energy production. Glutathione also plays a role in processing medications and cancer-causing compounds (carcinogens), and building DNA, proteins, and other important cellular components.
