Journal ArticleDOI
VLCAD deficiency in a patient who recovered from ventricular fibrillation, but died suddenly of a respiratory syncytial virus infection
Akiko Yamamoto,Kimitoshi Nakamura,Shirou Matsumoto,Masanori Iwai,Yosuke Shigematsu,Go Tajima,Miyuki Tsumura,Satoshi Okada,Hiroshi Mitsubuchi,Fumio Endo +9 more
Reads0
Chats0
TLDR
The case of a newborn infant with VLCAD deficiency who developed ventricular fibrillation, which was successfully treated by intensive care, but who suddenly died after a respiratory syncytial virus infection is reported.Abstract:
VLCAD deficiency is an autosomal recessive disorder caused by a defect of fatty acid oxidation. The phenotype is classified into three clinical forms on the basis of the onset of symptoms: a severe form with neonatal onset; a milder form with childhood onset; and a late-onset form. The neonatal form is the most common, and has a higher mortality rate than the others. We report the case of a newborn infant with VLCAD deficiency who developed ventricular fibrillation, which was successfully treated by intensive care, but who suddenly died after a respiratory syncytial virus infection. Early institution of i.v. glucose treatment and active immunization with vaccine, such as palivizumab (anti-RSV mAb), may be important to reduce the frequency and severity of life-threatening episodes.read more
Citations
More filters
Journal ArticleDOI
Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiency.
Kenji Yamada,Takeshi Taketani +1 more
TL;DR: Although the clinical efficacy of bezafibrate remains controversial, a recent open-label clinical trial showed efficacy of this drug in improving quality of life and multiple acyl-CoA dehydrogenase deficiencies and these drugs may be promising for the treatment of FAODs, though further studies are required.
Journal ArticleDOI
CHD and respiratory syncytial virus: global expert exchange recommendations.
Robert Tulloh,Constancio Medrano-Lopez,Paul A. Checchia,Claudia Stapper,Naokata Sumitomo,Matthias Gorenflo,Eun Jung Bae,Antonio Juanico,Juan Miguel Gil-Jaurena,Mei-Hwan Wu,Talal Farha,Ali Dodge-Khatami,Rocky Tsang,Gerard Notario,Colleen Wegzyn +14 more
TL;DR: Evidence-based immunoprophylaxis recommendations were formulated for subgroups of children with CHD, but more data are needed to guide use in tropical/subtropical countries and in children with certain co-morbidities.
Journal ArticleDOI
Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Can Be Improved by Lowering Accumulation of Fatty Acid Oxidation Intermediates.
Suzan J. G. Knottnerus,Suzan J. G. Knottnerus,Isabella Mengarelli,Rob C. I. Wüst,Antonius Baartscheer,Jeannette C. Bleeker,Jeannette C. Bleeker,Ruben Coronel,Sacha Ferdinandusse,Kaomei Guan,Lodewijk IJlst,Wener Li,Xiaojing Luo,Vincent Portero,Ying Ulbricht,Gepke Visser,Gepke Visser,Ronald J.A. Wanders,Frits A. Wijburg,Arie O. Verkerk,Riekelt H. Houtkooper,Connie R. Bezzina +21 more
TL;DR: Results provide compelling evidence that reduced accumulation of fatty acid oxidation intermediates, either by enhanced fatty acids oxidation flux through increased mitochondria biogenesis (resveratrol) or by inhibition of fatty acids transport into the mitochondria (etomoxir), rescues pro-arrhythmia defects in VLCADD-CMs and open doors for new treatments.
Journal ArticleDOI
New Ratios for Performance Improvement for Identifying Acyl-CoA Dehydrogenase Deficiencies in Expanded Newborn Screening: A Retrospective Study
TL;DR: Three new ratios are identified that could improve the performance for ACAD deficiencies compared to the used indicators, and are considered to utilize C4/C5DC+C6-OH, C8/C 14:1, and C14:1/C16-OH as primary indicators for SCAD, MCAD, and VLCAD deficiency, respectively, in further expanded newborn screening practice.
Book ChapterDOI
Clinical, Biochemical, and Molecular Features in 37 Saudi Patients with Very Long Chain Acyl CoA Dehydrogenase Deficiency.
Abdulrahman Obaid,Marwan Nashabat,Majid Alfadhel,Ali Alasmari,Fuad Al Mutairi,Abdulrahman Alswaid,Eissa Faqeih,Aziza M. Mushiba,Marwah Albanyan,Maryam Alalwan,Deborah Marsden,Wafaa Eyaid +11 more
TL;DR: The clinical, biochemical, molecular findings, treatment, and outcome of patients with VLCAD deficiency over the last 14 years are reported, including the most common variant and one new variant in ACADVL.
References
More filters
Journal ArticleDOI
Arrhythmias and Conduction Defects as Presenting Symptoms of Fatty Acid Oxidation Disorders in Children
Damien Bonnet,D. Martin,Pascale de Lonlay,Elizabeth Villain,Philippe Jouvet,Daniel Rabier,Michèle Brivet,Jean-Marie Saudubray +7 more
TL;DR: Inborn errors of fatty acid oxidation should be considered in unexplained sudden death or near-miss in infants and in infants with conduction defects or ventricular tachycardia.
Journal ArticleDOI
Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship.
Niels Gregersen,Brage S. Andresen,Brage S. Andresen,Morten J. Corydon,Thomas J. Corydon,Rikke Katrine Jentoft Olsen,Lars Bolund,Peter Bross +7 more
TL;DR: It is proposed that the unraveling of the genetic and cellular determinants of the modulating effects of protein quality control systems may help to assess the balance between genetic and environmental factors in the clinical expression of a given mutation.
Journal ArticleDOI
Molecular Heterogeneity in Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency Causing Pediatric Cardiomyopathy and Sudden Death
Amit M. Mathur,Harold F. Sims,Deepika Gopalakrishnan,Beverly Gibson,Piero Rinaldo,Jerry Vockley,George Hug,Arnold W. Strauss +7 more
TL;DR: Infantile CM is the most common clinical phenotype of VLCAD deficiency, and although mortality at presentation is high, both the metabolic disorder and cardiomyopathy are reversible.
Journal ArticleDOI
Tandem Mass Spectrometry Screening for Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: The Value of Second-Tier Enzyme Testing
Ute Spiekerkoetter,Ulrike Haussmann,Martina Mueller,Frank ter Veld,Maren Stehn,René Santer,Zoltan Lukacs +6 more
TL;DR: Enzyme analysis in lymphocytes is a reliable and rapid method for correctly assessing all newborns with VLCADD and should be carried out in all newbornS identified during the first screening, regardless of the results of a later acylcarnitine profile.
Journal ArticleDOI
A severe genotype with favourable outcome in very long chain acyl-CoA dehydrogenase deficiency
E H Touma,M S Rashed,Christine Vianey-Saban,A Sakr,P. Divry,Niels Gregersen,Brage S. Andresen +6 more
TL;DR: A patient with very long chain acyl-CoA dehydrogenase (VLCAD) deficiency with severe neonatal presentation and cardiomyopathy was found to be homozygous for a severe mutation with no residual enzyme activity.