title: Very long-chain acyl CoA dehydrogenase deficiency which was accepted as infanticide.
abstract: Very-long-chain acyl-coenzyme A (CoA) dehydrogenase deficiency (VLCADD) (OMIM #201475) is an autosomal recessive disorder of fatty acid oxidation. Major phenotypic expressions are hypoketotic hypoglycemia, hepatomegaly, cardiomyopathy, myopathy, rhabdomyolysis, elevated creatinine kinase, and lipid infiltration of liver and muscle. At the same time, it is a rare cause of Sudden Infant Death Syndrome (SIDS) or unexplained death in the neonatal period [1-4]. We report a patient with VLCADD whose parents were investigated for infanticide because her three previous siblings had suddenly died after normal deliveries.
authors.affiliation: Gazi University Hospital, Department of Pediatric Nutrition and Metabolism, Ankara, Turkey. tubaeminoglu@yahoo.com
authors.forename: Tuba F
authors.initials: TF
authors.lastname: Eminoglu
authors.forename: Leyla
authors.initials: L
authors.lastname: Tumer
authors.forename: Ilyas
authors.initials: I
authors.lastname: Okur
authors.forename: Fatih S
authors.initials: FS
authors.lastname: Ezgu
authors.forename: Gursel
authors.initials: G
authors.lastname: Biberoglu
authors.forename: Alev
authors.initials: A
authors.lastname: Hasanoglu
mesh_terms: D044942:Acyl-CoA Dehydrogenase, Long-Chain / Q000172:deficiency / Q000235:genetics; D000080984:Congenital Bone Marrow Failure Syndromes; D003241:Consanguinity; D003937:Diagnosis, Differential; D005091:Exons; D005260:Female; D053803:Forensic Genetics; D006343:Heart Septal Defects / Q000000981:diagnostic imaging / Q000209:etiology; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000000981:diagnostic imaging / Q000209:etiology; D007231:Infant, Newborn; D007237:Infanticide; D008052:Lipid Metabolism, Inborn Errors; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics; D028361:Mitochondrial Diseases / Q000175:diagnosis* / Q000235:genetics; D009135:Muscular Diseases / Q000175:diagnosis* / Q000235:genetics; D009154:Mutation; D010375:Pedigree; D014463:Ultrasonography
chemical_list: D044942:Acyl-CoA Dehydrogenase, Long-Chain