title: Expanded newborn screening identifies maternal primary carnitine deficiency.
abstract: Primary carnitine deficiency impairs fatty acid oxidation and can result in hypoglycemia, hepatic encephalopathy, cardiomyopathy and sudden death. We diagnosed primary carnitine deficiency in six unrelated women whose unaffected infants were identified with low free carnitine levels (C0) by newborn screening using tandem mass spectrometry. Given the lifetime risk of morbidity or sudden death, identification of adult patients with primary carnitine deficiency is an added benefit of expanded newborn screening programs.
authors.affiliation: University of Minnesota, Department of Pediatrics, Division of Genetics and Metabolism, Institute of Human Genetics, Minneapolis, MN, USA.
authors.forename: Lisa A
authors.initials: LA
authors.lastname: Schimmenti
authors.forename: Eric A
authors.initials: EA
authors.lastname: Crombez
authors.forename: Bernd C
authors.initials: BC
authors.lastname: Schwahn
authors.forename: Bryce A
authors.initials: BA
authors.lastname: Heese
authors.forename: Timothy C
authors.initials: TC
authors.lastname: Wood
authors.forename: Richard J
authors.initials: RJ
authors.lastname: Schroer
authors.forename: Kristi
authors.initials: K
authors.lastname: Bentler
authors.forename: Stephen
authors.initials: S
authors.lastname: Cederbaum
authors.forename: Kiki
authors.initials: K
authors.lastname: Sarafoglou
authors.forename: Mark
authors.initials: M
authors.lastname: McCann
authors.forename: Piero
authors.initials: P
authors.lastname: Rinaldo
authors.forename: Dietrich
authors.initials: D
authors.lastname: Matern
authors.forename: Cristina Amat
authors.initials: CA
authors.lastname: di San Filippo
authors.forename: Marzia
authors.initials: M
authors.lastname: Pasquali
authors.forename: Susan A
authors.initials: SA
authors.lastname: Berry
authors.forename: Nicola
authors.initials: N
authors.lastname: Longo
mesh_terms: D000328:Adult; D002331:Carnitine / Q000097:blood* / Q000172:deficiency*; D005227:Fatty Acids / Q000378:metabolism; D005260:Female; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D052439:Lipid Metabolism Disorders / Q000235:genetics*; D015997:Neonatal Screening / Q000379:methods*; D010084:Oxidation-Reduction; D053719:Tandem Mass Spectrometry / Q000379:methods
chemical_list: D005227:Fatty Acids; D002331:Carnitine