Glutaric aciduria type I is a rare organic aciduria caused by inherited deficiency of glutaryl-CoA dehydrogenase, a mitochondrial enzyme involved in the final common catabolic pathways of L-lysine, L-hydroxylysine, and L-trytophan. The majority of untreated patients develop striatal injury and second...
Neuroimaging findings in glutaric aciduria type 1. Pediatr Radiol 2003; 33: 823-30.Twomey EL, Naughten ER, Donoghue VB, Ryan S. Neuroimag- ing findings in glutaric aciduria type 1. pediatr Radiol 2003;33 (12):823-30.Twomey, Eileen EL, Naughten, ER, Donoghue VB, Ryan ...
一.总述 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...
glutaric aciduria type Glutaric aciduria type 1 glutaric aciduria type 2 glutaric aciduria type 2A Glutaric Aciduria Type I Glutaric Aciduria Type II Glutaric aciduria, type 2 glutaricaciduria Glutaricaciduria I Glutaricaciduria II glutarol glutaryl-CoA ...
12A).1,12 However, glutaric aciduria type I generally has basal ganglia (especially putamen; see Fig. 12A, B) and occasionally brainstem and dentate nucleus T2 prolongation and may have cerebellar heterotopia, whereas glutaric aciduria type II may have corpus callosum hypoplasia, vermian agenesis,...
aciduria type1 [J] .Pediat r Res ,2006 ,59(2) :196‐202 . [6] Carroll AE ,Downs SM .Comprehensive cost‐utility analysis of newborn screening strategies [J ] . Pediatrics ,2006 ,117 (2) :287‐295 . (收稿日期 :2014‐03‐05 修回日期 :2014‐04‐14) ...
Please try refreshing the page. If that doesn't work, please contact support so we can address the problem. Abstract We report the MR imaging findings in two children with glutaric aciduria type I (GA I). It is important to consider this disorder in the differential diagnosis in a child ...
Glutaric aciduria type I: a common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania Am. J. Med. Genet., 41 (1991), pp. 89-95 CrossrefView in ScopusGoogle Scholar [53] D.H. Morton Through my window--remarks at the 125th year celebratio...
Image:Treatment of glutaric aciduria type I (GA-I) via intracerebroventricular delivery of GCDH. CREDIT: Institute of Zoology, Chinese Academy of Sciences, China. ### Contact the corresponding author: Wei Li,liwei@ioz.ac.cn 回到 新闻
BACKGROUND: Glutaric aciduria type I (GA-I) is a cerebral organic aciduria caused by inherited deficiency of glutaryl-CoA dehydrogenase and is characterized biochemically by an accumulation of putatively neurotoxic dicarboxylic metabolites. The majority of untreated patients develops a complex movement ...