3-METHYLCROTONYL-COENZYME-A CARBOXYLASE DEFICIENCY IN AMISH MENNONITEADULTS IDENTIFIED BY DETECTION OF INCREASED ACYLCARNITINES IN BLOOD SPOTS OF THEIR CHILDREN/

Authors
GIBSON KM BENNETT MJ NAYLOR EW MORTON DH
Citation
Km. Gibson et al., 3-METHYLCROTONYL-COENZYME-A CARBOXYLASE DEFICIENCY IN AMISH MENNONITEADULTS IDENTIFIED BY DETECTION OF INCREASED ACYLCARNITINES IN BLOOD SPOTS OF THEIR CHILDREN/, The Journal of pediatrics, 132(3), 1998, pp. 519-523
Citations number
13
Categorie Soggetti
Pediatrics
Journal title
The Journal of pediatrics → ACNP
ISSN journal
00223476
Volume
132
Issue
3
Year of publication
1998
Part
1
Pages
519 - 523
Database
ISI
SICI code
0022-3476(1998)132:3<519:3CDIAM>2.0.ZU;2-H
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 chil dren, in whom MCC activity was normal.