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1 GA-1 signiica aciduria glutárica tipo 1. Se pronuncia a-ci-du-ria glu-tá-ri-ca. Es una afección metabólica hereditaria. ¿Qué es la GA-1? (Aciduria glutárica tipo 1, en español)
24 Αυγ 2023 · Glutaric aciduria type I (GA1) is a rare hereditary metabolic disorder caused by a deficiency of the mitochondrial enzyme glutaryl-CoA dehydrogenase (GCDH). It is in the group of disorders known as cerebral organic acidemias.
Glutaric Aciduria Type 1 (GA1) is an inherited metabolic disorder which affects the breakdown of protein containing foods. Protein is one of the main nutrients in our diet.
Glutaric aciduria type I (synonym, glutaric acidemia type I) is an autosomal recessive disease caused by inherited deficiency of glutaryl-CoA dehydrogenase. This mitochondrial enzyme is encoded by the GCDH gene localized on gene map locus 19p13.2 and is involved in the catabolism of L-lysine, L-hydroxylysine and L-tryptophan.
Glutaric aciduria type 1 (GA-1) also called glutaric acidemia type 1, is an inherited, genetic disorder. GA-1 occurs when there is a defect in an enzyme that helps break down protein from food. The name of the enzyme is glutaryl-CoA dehydrogenase (GCDH).
GA1 can be described as a metabolic disorder, a neurometabolic disease, a cerebral palsy or a basal ganglia disorder (it may also be misdiagnosed as shaken baby syndrome). Depending on the paradigm adopted, GA1 will mostly be managed with precursor restriction or with neurorehabilitation.
14 Ιουν 2022 · Glutaric aciduria type 1 (GA1, OMIM#231670) is a rare neurometabolic disorder of lysine, hydroxylysine and tryptophan metabolism caused by profound deficiency of the mitochondrial enzyme, glutaryl-CoA dehydrogenase (GCDH; EC number: 1.3.99.7).
