Very long-chain acyl CoA dehydrogenase deficiency which was accepted as infanticide

EMİNOĞLU F. T., TÜMER L., OKUR İ., EZGÜ F. S., BİBEROĞLU G., Hasanoglu A.

FORENSIC SCIENCE INTERNATIONAL, cilt.210, sa.1-3, 2011 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 210 Sayı: 1-3
  • Basım Tarihi: 2011
  • Doi Numarası: 10.1016/j.forsciint.2011.04.003
  • Dergi Adı: FORENSIC SCIENCE INTERNATIONAL
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Anahtar Kelimeler: Very long-chain acyl-CoA dehydrogenase deficiency, Sudden death, Postmortem screening, ACID OXIDATION DISORDERS, TANDEM MASS-SPECTROMETRY, UNEXPECTED DEATH, SUDDEN, DIAGNOSIS, COENZYME, CARDIOMYOPATHY, IDENTIFICATION, AUTOPSY, DISEASE
  • Ankara Üniversitesi Adresli: Hayır

Özet

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. (C) 2011 Elsevier Ireland Ltd. All rights reserved.