3-methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children

被引：48
|
作者：
Gibson, KM
Bennett, MJ
Naylor, EW
Morton, DH
机构：
[1] Baylor Univ, Med Ctr, Inst Metab Dis, Dallas, TX USA
[2] Univ Texas, SW Med Ctr, Dept Neurol, Dallas, TX 75235 USA
[3] Univ Texas, SW Med Ctr, Dept Pathol, Dallas, TX USA
[4] Neo Gen Screening, Pittsburgh, PA USA
[5] Clin Special Children, Lancaster, PA USA
来源：
JOURNAL OF PEDIATRICS | 1998年 / 132卷 / 03期
关键词：
D O I：
10.1016/S0022-3476(98)70032-0
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
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.
引用
收藏
页码：519 / 523
页数：5
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