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...
Glutaric aciduria type 1 (GA1) is an inherited neurometabolic disorder caused by mutations in the GCDH gene encoding glutaryl-CoA dehydrogenase (GCDH), which forms homo- and heteromeric complexes in the mitochondrial matrix. GA1 patients are prone to the development...
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,...
(redirected fromGlutaric aciduria type 1) Also found in:Acronyms,Wikipedia. An inherited disorder marked by multiple neurological deficits in childhood, including motor dysfunction, developmental delay, and brain atrophy. It is caused by defective manufacture of glutaryl-coenzyme A dehydrogenase. ...
Glutaric aciduria type 1 (GA1) is due to a deficiency of glutaryl-CoA dehydrogenase, an enzyme in the catabolic pathway of the amino acids lysine, hydroxylysine, and tryptophan (Boy et al., 2017). Unlike the organic acid disorders described previously that have systemic manifestations including...
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 diagn
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. ...
GLUTARIC aciduriaCESAREAN sectionPREGNANCYANESTHESIAANALGESIAGlutaric aciduria type 1 (GA-1) presents unique challenges for anaesthetists. This case report discusses anaesthesia management in a pregnant woman with GA-1 undergoing cesarean delivery. Based on a cautious consideration of ...
Infants with macrocephaly, young children with acute disease resembling encephalitis, and children with truncal hypotonia, ataxia, or dystonia may be affected by glutaric aciduria type I (GA 1, glutaryl-CoA-dehydrogenase deficiency), a not-so-rare autosomal recessive neurometabolic disease. Well-kno...
Background: In glutaric aciduria type 1 (GA1), dietary treatment with emergency management (EM) is essential to prevent encephalopathic crisis (EC). In the present study, dietary practices were examined in a single UK centre without access to newborn screening.Methods: Twenty GA1 patients (11...