Glutaric acidemia I is an autosomal recessive metabolic disorder characterized by gliosis and neuronal loss in the basal ganglia and a progressive movement disorder that usually begins during the first year of life. Clinical picture ranges from acute infantile encephalopathy and sudden death to static...
戊二酸血症I型(Glutaric aciduria type 1,GA-1)是一种少见的氨基酸代谢病,由GCDH基因突变引起,呈常染色体隐性遗传,由Goodman于1975年首次报道。主要表现为脑萎缩,大头畸形及纹状体变性所致的急性肌张力障碍。 二.症状 GA-1国内目前病例数不多,且临床表现不典型,...
1型谷氨酸血症(或“戊二酸尿症”,“GA1”或“GAT1”)是遗传性疾病,其中身体不能完全分解氨基酸赖氨酸,羟赖氨酸和色氨酸。过量的中间分解产物(戊二酸,戊二酰辅酶A,3-羟基戊二酸,戊二酸)会积累并对大脑(以及其他器官[1])造成损害,尤其是基底神...
1型谷氨酸血症(或“戊二酸尿症”,“GA1”或“GAT1”)是遗传性疾病,其中身体不能完全分解氨基酸赖氨酸,羟赖氨酸和色氨酸。过量的中间分解产物(戊二酸,戊二酰辅酶A,3-羟基戊二酸,戊二酸)会积累并对大脑(以及其他器官[1])造成损害,尤其是基底神经节,这些区域是这有助于调节运动。 GA1引起继发性肉毒碱缺乏,...
Glutaric acidemia type 1 Glutaric acidemia type 2 Glutaric acidemia type 2 glutaric acidemia type 2A Glutaric acidemia type II Glutaric aciduria Glutaric aciduria glutaric aciduria type Glutaric aciduria type 1 glutaric aciduria type 2 glutaric aciduria type 2A ...
Glutaric acidemia type 1 (GA-1) is an autosomal recessive disorder of lysine, hydroxylysine, and tryptophan metabolism caused by a deficiency of glutaryl- CoA dehydrogenase. It results in the accumulation of 3-hydroxyglutaric and glutaric acid. Patients can present with brain atrophy and macrocephaly...
Table 1. Glutaric Acidemia Type 1 Cohorts: Clinic for Special Children, 1989–2019. Empty CellBirth yearAge in years (Mean ± SD)Newborn screeningl-Carnitine supplementaIntact protein restrictionbLys-Arg+ FormulacStriatal degeneration (%) Empty Cell Empty Cell TotalAcuteInsidiousRelative Risk (95%...
戊二酸血症Ⅰ型(glutaricacidemiatype1, GA‐1)为戊二酰辅酶A脱氢酶基因缺陷所致的常 染色体遗传性疾病,该病在国内报道相对较少,很多 患儿在临床上未能及时获得诊治。现将本院2013 年确诊3例戊二酸血症Ⅰ型患者报道如下,结合文 献复习,旨在提高对本病的认识. ...
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Peiran Zhao1, Yinglin Zeng1, Xiaolong Qiu1, Jinying Luo3*† and Liangpu Xu1* Abstract Background Glutaric acidemia type 1 (GA1) is a rare autosomal recessive inherited metabolic disorder caused by variants in the gene encoding the enzyme glutaryl-CoA dehydrogenase (GCDH). ...