title: Detection of neonatal carnitine palmitoyltransferase II deficiency by expanded newborn screening with tandem mass spectrometry.
abstract: The introduction of tandem mass spectrometry to newborn screening has substantially expanded our ability to diagnose metabolic diseases in the newborn period. We report the first case of neonatal carnitine palmitoyltransferase deficiency II detected by expanded newborn screening with tandem mass spectrometry. The neonate presented with dysmorphic facial features, structural malformations, renal failure, seizures, and cardiac arrythmias and died on the third day of life. This experience illustrates the importance of expanded newborn screening to avoid missing a metabolic diagnosis in early infantile death.
authors.affiliation: Division of Genetics, Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA. simone.albersbremer@tch.harvard.edu
authors.forename: S
authors.initials: S
authors.lastname: Albers
authors.forename: D
authors.initials: D
authors.lastname: Marsden
authors.forename: E
authors.initials: E
authors.lastname: Quackenbush
authors.forename: A R
authors.initials: AR
authors.lastname: Stark
authors.forename: H L
authors.initials: HL
authors.lastname: Levy
authors.forename: M
authors.initials: M
authors.lastname: Irons
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency*; D005227:Fatty Acids / Q000378:metabolism; D005865:Gestational Age; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000378:metabolism; D015997:Neonatal Screening / Q000379:methods*; D010084:Oxidation-Reduction; D021241:Spectrometry, Mass, Electrospray Ionization / Q000379:methods / Q000706:statistics & numerical data
chemical_list: D005227:Fatty Acids; D002334:Carnitine O-Palmitoyltransferase