title: Sudden neonatal death in carnitine transporter deficiency.
abstract: A newborn infant died suddenly and unexpectedly on day 5 of life. Postmortem investigations led to a suspicion of carnitine transporter deficiency, a diagnosis supported by the finding that both parents are heterozygotes for this disorder. The fasting stress caused by poor breast-feeding with no formula supplements and, possibly, the vegetarian diet of the mother were likely the critical factors leading to neonatal death, an outcome previously not described in this disorder.
authors.affiliation: Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06520-8005, USA.
authors.forename: P
authors.initials: P
authors.lastname: Rinaldo
authors.forename: C A
authors.initials: CA
authors.lastname: Stanley
authors.forename: B Y
authors.initials: BY
authors.lastname: Hsu
authors.forename: L A
authors.initials: LA
authors.lastname: Sanchez
authors.forename: H J
authors.initials: HJ
authors.lastname: Stern
mesh_terms: D000273:Adipose Tissue / Q000378:metabolism / Q000473:pathology; D001942:Breast Feeding; D002333:Carnitine Acyltransferases / Q000032:analysis / Q000097:blood / Q000172:deficiency* / Q000235:genetics; D014676:Diet, Vegetarian; D005215:Fasting; D005227:Fatty Acids / Q000378:metabolism; D005234:Fatty Liver / Q000378:metabolism / Q000473:pathology; D005260:Female; D006579:Heterozygote; D006801:Humans; D007225:Infant Food; D007231:Infant, Newborn; D008052:Lipid Metabolism, Inborn Errors / Q000097:blood / Q000235:genetics; D008297:Male; D009206:Myocardium / Q000378:metabolism / Q000473:pathology; D011247:Pregnancy; D011297:Prenatal Exposure Delayed Effects; D013312:Stress, Physiological / Q000503:physiopathology; D013398:Sudden Infant Death / Q000209:etiology*
chemical_list: D005227:Fatty Acids; D002333:Carnitine Acyltransferases