Expanded newborn screening identifies maternal primary carnitine deficiency.
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.
Schimmenti
Lisa A
LA
University of Minnesota, Department of Pediatrics, Division of Genetics and Metabolism, Institute of Human Genetics, Minneapolis, MN, USA.
Crombez
Eric A
EA
Schwahn
Bernd C
BC
Heese
Bryce A
BA
Wood
Timothy C
TC
Schroer
Richard J
RJ
Bentler
Kristi
K
Cederbaum
Stephen
S
Sarafoglou
Kiki
K
McCann
Mark
M
Rinaldo
Piero
P
Matern
Dietrich
D
di San Filippo
Cristina Amat
CA
Pasquali
Marzia
M
Berry
Susan A
SA
Longo
Nicola
N
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
D005227:Fatty Acids; D002331:Carnitine