TY - JOUR PY - 2011// TI - Very long-chain acyl CoA dehydrogenase deficiency which was accepted as infanticide JO - Forensic science international A1 - Eminoglu, Tuba F. A1 - Tumer, Leyla A1 - Okur, Ilyas A1 - Ezgu, Fatih S. A1 - Biberoglu, Gursel A1 - Hasanoglu, Alev SP - e1 EP - 3 VL - 210 IS - 1-3 N2 - 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.

Language: en

LA - en SN - 0379-0738 UR - http://dx.doi.org/10.1016/j.forsciint.2011.04.003 ID - ref1 ER -