Postmortem diagnosis of very long chain acyl-CoA dehydrogenase (VLCAD) deficiency in a neonate with sudden cardiac death.

Autor: Singh P; Division of Genetics and Genomic Medicine, Department of Pediatrics Washington University School of Medicine in St. Louis Saint Louis Missouri USA.; Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology University of Iowa, Roy J. and Lucille A. Carver College of Medicine Iowa City Iowa USA., Amaro D; Department of Pathology and Anatomical Sciences University of Missouri School of Medicine Columbia Missouri USA., Obi O; Division of Neonatology, Department of Child Health University of Missouri School of Medicine Columbia Missouri USA., Kiran F; Department of Pathology and Anatomical Sciences University of Missouri School of Medicine Columbia Missouri USA., Hediger E; Division of Genetics and Genomic Medicine, Department of Pediatrics Washington University School of Medicine in St. Louis Saint Louis Missouri USA., Toler TL; Division of Genetics and Genomic Medicine, Department of Pediatrics Washington University School of Medicine in St. Louis Saint Louis Missouri USA., Dickson PI; Division of Genetics and Genomic Medicine, Department of Pediatrics Washington University School of Medicine in St. Louis Saint Louis Missouri USA.; Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology University of Iowa, Roy J. and Lucille A. Carver College of Medicine Iowa City Iowa USA., Grange DK; Division of Genetics and Genomic Medicine, Department of Pediatrics Washington University School of Medicine in St. Louis Saint Louis Missouri USA.
Jazyk: angličtina
Zdroj: JIMD reports [JIMD Rep] 2023 Apr 30; Vol. 64 (4), pp. 261-264. Date of Electronic Publication: 2023 Apr 30 (Print Publication: 2023).
DOI: 10.1002/jmd2.12365
Abstrakt: Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is an autosomal recessive long chain fatty acid β-oxidation disorder with a variable clinical spectrum, ranging from an acute neonatal presentation with cardiac and hepatic failure to childhood or adult onset of symptoms with hepatomegaly or rhabdomyolysis provoked by illness or exertion. Neonatal cardiac arrest or sudden unexpected death can be the presenting phenotype in some patients, emphasizing the importance of early clinical suspicion and intervention. We report a patient who had a cardiac arrest and died at one day of age. Following her death, the newborn screen reported biochemical evidence of VLCAD deficiency, which was confirmed with pathologic findings at autopsy and by molecular genetic testing.
Competing Interests: Patricia Dickson declares research support from Genzyme, Alnylam, and M6P Therapeutics. She is also a consultant for Mandos Health. All other authors declare no conflicts of interest.
(© 2023 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM.)
Databáze: MEDLINE
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