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

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 profil...

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Bibliographic Details
Published in:	The Journal of pediatrics Vol. 132; no. 3; pp. 519 - 523
Main Authors:	Gibson, K.M., Bennett, M.J., Naylor, E.W., Morton, D.H.
Format:	Journal Article
Language:	English
Published:	New York, NY Mosby, Inc 01-03-1998 Elsevier Mosby-Year Book, Inc
Subjects:	Adult Adults Amino Acid Metabolism, Inborn Errors - diagnosis Aminoacid disorders Biological and medical sciences Carbon-Carbon Ligases - blood Carbon-Carbon Ligases - deficiency Carnitine - blood Child, Preschool Christianity Counties Errors of metabolism Family (Sociological Unit) Female Humans Infant, Newborn Leucine - metabolism Medical sciences Metabolic diseases Metabolism Mothers Neonates Patients Pennsylvania Spectrometry, Mass, Fast Atom Bombardment Test Results United States North America America Pennsylvania GC-MS FAB-MS 3-MCG 3-HIVA MCAD Carbon-carbon ligases Human Acylcarnitine hydrolase Enzyme Family study Deficiency Metabolic diseases Esterases Medical screening Blood Carboxylic ester hydrolases Methylcrotonoyl-CoA carboxylase Newborn Ligases Aminoacid Hydrolases
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