Cargando…

Molecular and clinical characteristics of very long-chain acyl-CoA dehydrogenase deficiency: A single-center experience in Saudi Arabia

OBJECTIVES: To describe the clinical and molecular characteristics of patients with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency. METHODS: A retrospective observational cross-sectional analysis was conducted on all patients with VLCAD deficiency at (Genetic/Metabolic Section), Prince Su...

Descripción completa

Detalles Bibliográficos
Autores principales:	Alhashem, Amal, Mohamed, Sarar, Abdelraheem, Manal, AlGufaydi, Bushra, Al-Aqeel, Aida
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Saudi Medical Journal 2020
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7502945/ https://www.ncbi.nlm.nih.gov/pubmed/32518924 http://dx.doi.org/10.15537/smj.2020.6.25131

Ejemplares similares

Peripheral venous route for administration of ammonul infusion for treatment of acute hyperammonemia : An experience from a tertiary center in Saudi Arabia
por: Alhashem, Amal M., et al.
Publicado: (2020)

Cardiac Hypertrophy in Mice with Long-Chain Acyl-CoA Dehydrogenase (LCAD) or Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency
por: Cox, Keith B., et al.
Publicado: (2009)

Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency: Family Impact and Perspectives
por: Crawford, Sarah, et al.
Publicado: (2023)

Rhabdomyolysis in a neonate due to very long chain acyl CoA dehydrogenase deficiency
por: Scott Schwoerer, Jessica, et al.
Publicado: (2015)

The phenotypic spectrum of dihydrolipoamide dehydrogenase deficiency in Saudi Arabia
por: Alfarsi, Anar, et al.
Publicado: (2021)

Fasting induces prominent proteomic changes in liver in very long chain Acyl-CoA dehydrogenase deficient mice
por: Wang, Wei, et al.
Publicado: (2016)

Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia: A 6-year study
por: Mohamed, Sarar, et al.
Publicado: (2020)

H(2)O(2) release from the very long chain acyl-CoA dehydrogenase
por: Kakimoto, Pâmela A.H.B., et al.
Publicado: (2015)

Very long‐chain acyl‐CoA dehydrogenase deficiency: No developmental delay after cardiopulmonary arrest
por: Takizaki, Nao, et al.
Publicado: (2021)

Pervasive inflammatory activation in patients with deficiency in very‐long‐chain acyl‐coA dehydrogenase (VLCADD)
por: Vallejo, Abbe N, et al.
Publicado: (2021)

Low Fasting Concentrations of Glucagon in Patients with Very Long-Chain Acyl-CoA Dehydrogenase Deficiency
por: Stenlid, Rasmus, et al.
Publicado: (2023)

Altered Energetics of Exercise Explain Risk of Rhabdomyolysis in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency
por: Diekman, E. F., et al.
Publicado: (2016)

Nutritional ketosis improves exercise metabolism in patients with very long‐chain acyl‐CoA dehydrogenase deficiency
por: Bleeker, Jeannette C., et al.
Publicado: (2020)

Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency
por: van Maldegem, Bianca T., et al.
Publicado: (2010)

Effects of short‐chain acyl‐CoA dehydrogenase on cardiomyocyte apoptosis
por: Zeng, Zhenhua, et al.
Publicado: (2016)

Medium‐chain Acyl‐COA dehydrogenase deficiency: Pathogenesis, diagnosis, and treatment
por: Mason, Emily, et al.
Publicado: (2022)

Combined HIIT and Resistance Training in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: A Case Report
por: Herrera-Olivares, Alba M., et al.
Publicado: (2019)

Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Gene-Targeted Mice
por: Tolwani, Ravi J, et al.
Publicado: (2005)

Medium-Chain Acyl-CoA Dehydrogenase Deficiency in an Infant with Dilated Cardiomyopathy
por: Marcì, Marcello, et al.
Publicado: (2009)

Medium chain acyl-CoA dehydrogenase deficiency in a premature infant
por: Dobrowolski, Steven F., et al.
Publicado: (2017)

Dietary restriction in the long-chain acyl-CoA dehydrogenase knockout mouse
por: Diekman, Eugène F., et al.
Publicado: (2021)

Mitochondrial energetics is impaired in very long-chain acyl-CoA dehydrogenase deficiency and can be rescued by treatment with mitochondria-targeted electron scavengers
por: Seminotti, Bianca, et al.
Publicado: (2019)

Diet-Sensitive Sources of Reactive Oxygen Species in Liver Mitochondria: Role of Very Long Chain Acyl-CoA Dehydrogenases
por: Cardoso, Ariel R., et al.
Publicado: (2013)

Renal response to short- and long-term exercise in very-long-chain acyl-CoA dehydrogenase-deficient (VLCAD(−/−)) mice
por: Tucci, Sara, et al.
Publicado: (2014)

SIRT3 and SIRT5 Regulate the Enzyme Activity and Cardiolipin Binding of Very Long-Chain Acyl-CoA Dehydrogenase
por: Zhang, Yuxun, et al.
Publicado: (2015)

Metabolic Outcomes of Anaplerotic Dodecanedioic Acid Supplementation in Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficient Fibroblasts
por: Radzikh, Igor, et al.
Publicado: (2021)

Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: High Incidence of Detected Patients With Expanded Newborn Screening Program
por: Remec, Ziga I., et al.
Publicado: (2021)

Postmortem diagnosis of very long chain acyl‐CoA dehydrogenase (VLCAD) deficiency in a neonate with sudden cardiac death
por: Singh, Prapti, et al.
Publicado: (2023)

In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes
por: Touw, Catharina ML, et al.
Publicado: (2013)

First case report of short-chain acyl-CoA dehydrogenase deficiency in China
por: Jiang, MinYan, et al.
Publicado: (2013)

A case report of short-chain acyl-CoA dehydrogenase deficiency (SCADD)
por: Lampret, Barbka Repic, et al.
Publicado: (2015)

Medium-chain Acyl-CoA dehydrogenase deficiency presenting with neonatal pulmonary haemorrhage
por: Staels, Willem, et al.
Publicado: (2015)

MCT oil-based diet reverses hypertrophic cardiomyopathy in a patient with very long chain acyl-coA dehydrogenase deficiency
por: Pervaiz, Muhammad Ali, et al.
Publicado: (2011)

Long-term Correction of Very Long-chain Acyl-CoA Dehydrogenase Deficiency in Mice Using AAV9 Gene Therapy
por: Keeler, Allison M, et al.
Publicado: (2012)

Very long-/ and long Chain-3-Hydroxy Acyl CoA Dehydrogenase Deficiency correlates with deregulation of the mitochondrial fusion/fission machinery
por: Hagenbuchner, Judith, et al.
Publicado: (2018)

Fructose-1,6-bisphosphatase deficiency with confirmed molecular diagnosis: An important cause of hypoglycemia in children
por: Salih, Rihab M., et al.
Publicado: (2020)

CR reprograms acetyl‐CoA metabolism and induces long‐chain acyl‐CoA dehydrogenase and CrAT expression
por: Mezhnina, Volha, et al.
Publicado: (2020)

Acyl-CoA thioesterase activity of peroxisomal ABC protein ABCD1 is required for the transport of very long-chain acyl-CoA into peroxisomes
por: Kawaguchi, Kosuke, et al.
Publicado: (2021)

Changes in short-chain acyl-coA dehydrogenase during rat cardiac development and stress
por: Huang, Jinxian, et al.
Publicado: (2015)

Parental Experiences of Raising a Child With Medium Chain Acyl-CoA Dehydrogenase Deficiency
por: Piercy, Hilary, et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_03kpve6dvt6ittu4cgmujssh7r