Citation

Eminoglu TF, Tumer L, Okur I, Ezgu FS, Biberoglu G, Hasanoglu A. Forensic Sci. Int. 2011; 210(1-3): e1-3.

Affiliation

Gazi University Hospital, Department of Pediatric Nutrition and Metabolism, Ankara, Turkey.

Copyright

(Copyright © 2011, Elsevier Publishing)

DOI

10.1016/j.forsciint.2011.04.003

PMID

21531094

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.

Language: en