通过检测阿米什/门诺派儿童血斑中酰基肉碱水平升高，发现其成年人群中存在3-甲基巴豆酰辅酶A羧化酶缺乏症。
3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children.
作者信息
Gibson K M, Bennett M J, Naylor E W, Morton D H
机构信息
Institute of Metabolic Disease, Baylor University Medical Center, Dallas, Texas, USA.
出版信息
J Pediatr. 1998 Mar;132(3 Pt 1):519-23. doi: 10.1016/s0022-3476(98)70032-0.
PMID:9544913
Abstract
Isolated 3-methylcrotonyl coenzyme A carboxylase (MCC) deficiency was documented in four adult women from the Amish/Mennonite population of Lancaster County, Pennsylvania. Metabolic and enzymatic investigations in these individuals were instituted after the detection of abnormal acylcarnitine profiles in blood spots obtained from their newborn children, in whom MCC activity was normal.
摘要
在宾夕法尼亚州兰开斯特县的阿米什/门诺派人群中，有4名成年女性被诊断出患有孤立性3-甲基巴豆酰辅酶A羧化酶（MCC）缺乏症。对这些个体进行代谢和酶学研究，是在从她们新生儿的血斑中检测到异常酰基肉碱谱之后开展的，而这些新生儿的MCC活性是正常的。
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