Pusti S, Das N, Nayek K, Biswas S
Department of Paediatrics, R. G. Kar Medical College and Hospital, Khudiram Bose Sarani, Kolkata, West Bengal 700004, India.
Case Rep Pediatr. 2014;2014:256356. doi: 10.1155/2014/256356. Epub 2014 Jan 27.
Glutaric aciduria 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. Affected patients can present with brain atrophy and macrocephaly and with acute dystonia secondary to striatal degeneration in most cases triggered by an intercurrent childhood infection with fever between 6 and 18 months of age. We report two such cases with macrocephaly, typical MRI pictures, and tandem mass spectrometry suggestive of glutaric aciduria type 1.
1型戊二酸血症(GA - 1)是一种常染色体隐性疾病,由戊二酰辅酶A脱氢酶缺乏引起,导致赖氨酸、羟赖氨酸和色氨酸代谢紊乱。它会导致3 - 羟基戊二酸和戊二酸积累。大多数情况下,受影响的患者会出现脑萎缩和巨头症,以及继发于纹状体变性的急性肌张力障碍,这种情况多由6至18个月大儿童期间并发的发热感染引发。我们报告了两例这样的病例,他们有巨头症、典型的磁共振成像(MRI)图片以及串联质谱分析结果提示为1型戊二酸血症。