Glutaric Aciduria Type I - Symptoms, Causes, Treatment | NORD
2023年8月24日 · 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. Individuals with this condition have deficiency or absence of GCDH enzyme that is involved in the lysine metabolism.
Glutaric Acidemia Type 1 - GeneReviews® - NCBI Bookshelf
2019年9月19日 · Guidelines for diagnosis and management of glutaric acidemia type 1 (GA-1) due to deficiency or absence of functional glutaryl-CoA dehydrogenase were developed in 2007 and recently revised [Boy et al 2017b]. GA-1 should …
戊二酸血症I型 - 百度百科
戊二酸血症Ⅰ型（glutaric acidemia type Ⅰ）又称戊二酸尿症Ⅰ型（glutaric aciduria type Ⅰ），为有机酸代谢病中较少见的类型，属常染色体隐性遗传病，由于细胞内戊二酰辅酶A脱氢酶（glutaryl-CoA dehydrogenase，GCDH）缺乏导致戊二酸蓄积，引起代谢紊乱及脑损害，致死及 ...
Glutaric aciduria type 1 - Wikipedia
GA1 is an autosomal recessive disorder caused by deficiency of the enzyme glutaryl-CoA dehydrogenase (GCDH), encoded by the GCDH gene. The severity of glutaric acidemia type 1 varies widely; some individuals are only mildly affected, while others suffer severe problems.
Glutaric acidemia type I - MedlinePlus
Glutaric acidemia type I (also called glutaric aciduria type I) is an inherited disorder in which the body is unable to process certain proteins properly. It is classified as an organic acid disorder, which is a condition that leads to an abnormal buildup of particular acids known as organic acids.
Glutaric aciduria type 1 - NHS
Glutaric aciduria type 1 (GA1) is a rare but serious inherited condition. It means the body can't process certain amino acids ("building blocks" of protein), causing a harmful build-up of substances in the blood and urine.
戊二酸血症1型诊治专家共识 - 中华医学遗传学杂志
戊二酸血症1型(glutaricacidemia type 1，GA1，OMIM 231670)是一种常染色体隐性遗传病，又称为戊二酸尿症1型(glutaric aciduria type I)，是由于戊二酰辅酶A脱氢酶(glutaryl-CoA dehydrogenase，GCDH)活性降低或缺失，导致赖氨酸、羟赖氨酸及色氨酸分解代谢受阻，代谢产 …
Glutaric Acidemia Type 1 - PMC - PubMed Central (PMC)
Glutaric acidemia type 1 (GA-1) is an autosomal recessive disorder of lysine, hydroxylysine, and tryptophan metabolism caused by deficiency of glutaryl-CoA dehydrogenase. It results in the accumulation of 3-hydroxyglutaric and glutaric acid.
Glutaric aciduria type 1: Insights into diagnosis and neurogenetic ...
3 天之前 · Glutaric aciduria type 1 (GA1) is an inherited metabolic disorder caused by a deficiency in the enzyme glutaryl-CoA dehydrogenase due to mutations in the GCDH gene. This enzyme deficiency leads to the accumulation of neurotoxic metabolites such as glutaric acid and 3-hydroxyglutaric acid, which can result in significant neurological damage if not managed promptly.
What is glutaric aciduria type 1? - Medical News Today
2023年10月20日 · Glutaric aciduria type 1 (GA1) is an inherited metabolic disorder. It results from an enzyme deficiency that prevents the body from breaking down some amino acids.