Introduction: Glutaric aciduria type I is an autosomal recessive disorder of lysine metabolism due to the defect of the enzyme glutaryl-CoA dehydrogenase. The regression of milestones following an intercurrent infection with disabling dystonia is the common presentation. We report the clinical features, diagnosis, and management of 14 south Indian children with glutaric aciduria type I . Results: Males predominated the study (57.1%).The mean age of onset of the symptoms was 8.57 ± 3.57 months. The mean age at the time of diagnosis was 35.21 ± 48.31 months. The history of consanguinity was noted in 57.1%. Development was normal prior to the onset of acute crises in nearly three fourths. Acute crises triggered by infection followed by the regression of milestones was the major presenting feature in 10 children (71.4%). Macrocephaly was another prominent feature in an equal number. Bat's wing appearance (fronto temporal atrophy) was present in all children. Nearly 80% had moderate to severe disability in the form of dystonic movement disorder and spastic quadriparesis. Conclusion: Glutaric aciduria type Ihas to be identified and managed early to have a better outcome.


中文翻译：

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小儿戊二酸尿症1型：14例，诊断与治疗


简介： I型戊二酸尿症是由于戊二酰辅酶A脱氢酶的缺陷导致的赖氨酸代谢的常染色体隐性遗传疾病。并发感染伴有致残性肌张力障碍后里程碑的消退是常见的表现。我们报告了 14 名南印度 I 型戊二酸尿症儿童的临床特征、诊断和治疗。结果：男性在研究中占主导地位（57.1%）。症状发作的平均年龄为 8.57 ± 3.57 个月。诊断时的平均年龄为 35.21 ± 48.31 个月。57.1% 有血缘关系。在近四分之三的急性危机发作之前，发育是正常的。10 名儿童 (71.4%) 的主要表现特征是感染引发的急性危机以及里程碑的消退。大头畸形是同等数量的另一个突出特征。蝙蝠的翅膀外观（额颞叶萎缩）出现在所有儿童中。近 80% 有中度至重度残疾，表现为肌张力障碍和痉挛性四肢瘫痪。结论： I型戊二酸尿症应及早发现和处理，以获得更好的疗效。