PDF(Pubmed)
Abstract：
Glutaric aciduria type 1 is a rare autosomal recessive disorder caused by a deficiency of glutaryl-CoA dehydrogenase, which is the key mitochondrial enzyme involved in the final degradation of lysine, L-hydroxylysine, and L-tryptophan. It is an inherited organic acidemia characterized by macrocephaly and dystonia, which results in high morbidity and mortality. In resource-limited countries like Nepal, where enzyme assays are not available, MRI has a great role to play in supporting diagnosis in such situations. Here, we present 2 cases of glutaric aciduria type 1 in brothers from the same parent that were diagnosed by MRI, and subsequent diet modification and L-carnitine therapy led to improvement of clinical symptoms.
摘要：
1型戊二酸尿症是一种罕见的常染色体隐性遗传疾病，由戊二酰辅酶A脱氢酶缺乏引起，是参与赖氨酸最终降解的关键线粒体酶，L-羟基赖氨酸,和L-色氨酸.它是一种遗传性有机酸血症，以大头畸形和肌张力障碍为特征，导致高发病率和死亡率。在像尼泊尔这样资源有限的国家，在没有酶测定的地方，在这种情况下，MRI在支持诊断方面发挥着重要作用。这里,我们提出了2例戊二酸尿症1型来自同一父母的兄弟，通过MRI诊断，随后的饮食调整和左旋肉碱治疗导致临床症状的改善。
