3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children
KM Gibson, MJ Bennett, EW Naylor, DH Morton - The Journal of pediatrics, 1998 - Elsevier
KM Gibson, MJ Bennett, EW Naylor, DH Morton
The Journal of pediatrics, 1998•ElsevierIsolated 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.(J Pediatr 1998; 132: 519-23)
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.(J Pediatr 1998; 132: 519-23)
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. (J Pediatr 1998;132:519-23)
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