تقرير
أعرض في EDS

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

التفاصيل البيبلوغرافية
العنوان: Postmortem diagnosis of very long chain acyl-CoA dehydrogenase (VLCAD) deficiency in a neonate with sudden cardiac death.
المؤلفون: 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.
المصدر: JIMD reports [JIMD Rep] 2023 Apr 30; Vol. 64 (4), pp. 261-264. Date of Electronic Publication: 2023 Apr 30 (Print Publication: 2023).
نوع المنشور: Case Reports
اللغة: English
بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 101568557 Publication Model: eCollection Cited Medium: Print ISSN: 2192-8304 (Print) Linking ISSN: 21928304 NLM ISO Abbreviation: JIMD Rep Subsets: PubMed not MEDLINE
أسماء مطبوعة: Publication: 2019- : [Hoboken, NJ] : Wiley
Original Publication: Berlin : SSIEM and Springer-Verlag, c2011.
مستخلص: 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.)
References: Mol Genet Metab. 2016 Aug;118(4):272-81. (PMID: 27209629)
Mol Genet Metab. 2015 Nov;116(3):139-45. (PMID: 26385305)
Mol Ther. 2009 Mar;17(3):425-9. (PMID: 19156135)
J Inherit Metab Dis. 2019 Sep;42(5):870-877. (PMID: 30993714)
JIMD Rep. 2023 Apr 30;64(4):261-264. (PMID: 37404675)
J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S129-31. (PMID: 20107901)
Mol Genet Metab. 2020 Sep - Oct;131(1-2):23-37. (PMID: 33093005)
Mol Genet Metab. 2009 Mar;96(3):85-90. (PMID: 19157942)
J Pediatr Endocrinol Metab. 2018 Mar 28;31(3):297-304. (PMID: 29425111)
Circulation. 1999 Nov 30;100(22):2248-53. (PMID: 10577999)
J Med Case Rep. 2021 Sep 1;15(1):441. (PMID: 34465376)
Front Genet. 2021 Jan 15;11:598760. (PMID: 33584796)
Am J Med Genet A. 2015 Jan;167A(1):211-4. (PMID: 25338548)
Zhejiang Da Xue Xue Bao Yi Xue Ban. 2022 Feb 25;51(1):122-128. (PMID: 36161784)
Circulation. 1999 Mar 16;99(10):1337-43. (PMID: 10077518)
Mol Genet Metab. 2019 May;127(1):64-73. (PMID: 31031081)
Med J Malaysia. 2019 Oct;74(5):454-455. (PMID: 31649231)
Am J Hum Genet. 1999 Feb;64(2):479-94. (PMID: 9973285)
J Inherit Metab Dis. 2019 Jan;42(1):159-168. (PMID: 30740737)
فهرسة مساهمة: Keywords: cardiac arrest; newborn screening; very long chain acyl CoA dehydrogenase (VLCAD) deficiency
تواريخ الأحداث: Date Created: 20230705 Latest Revision: 20230815
رمز التحديث: 20231215
مُعرف محوري في PubMed: PMC10315371
DOI: 10.1002/jmd2.12365
PMID: 37404675
قاعدة البيانات: MEDLINE
الوصف
تدمد:2192-8304
DOI:10.1002/jmd2.12365