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

• 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
• ISSN: 0022-3476; 1097-6833
• DOI: 10.1016/S0022-3476(98)70032-0

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)