Division of Biochemical Diseases, Department of Pediatrics, University of British Columbia, Vancouver, Canada.
Mol Genet Metab. 2011 Nov;104(3):410-3. doi: 10.1016/j.ymgme.2011.07.021. Epub 2011 Jul 26.
We describe two siblings with 3-methylglutaconic aciduria type I with phenotypic heterogeneity. The index case was a 14-year-old female with learning disability, attention deficit-hyperactivity and early onset subclinical leukoencephalopathy. Her 9-year-old brother had severe expressive speech delay and delay in speech sound development with normal cognitive functions. The diagnosis was confirmed by a demonstration of 3-methylglutaconyl-CoA hydratase enzyme deficiency in the cultured skin fibroblasts and homozygous deletion of exons 1-3 within the AUH gene.
我们描述了两例具有表型异质性的 3-甲基戊二酰基辅酶 A 尿症 I 型的兄弟姐妹。索引病例是一名 14 岁的女性，患有学习障碍、注意力缺陷多动障碍和早期亚临床脑白质病。她 9 岁的弟弟有严重的表达性语言延迟和言语声音发育延迟，但认知功能正常。该诊断通过培养的皮肤成纤维细胞中 3-甲基戊二酰基辅酶 A 水合酶缺乏和 AUH 基因的外显子 1-3 纯合缺失得到证实。
