Cargando…

Long-term monitoring for short/branched-chain acyl-CoA dehydrogenase deficiency: A single-center 4-year experience and open issues

INTRODUCTION: Short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD) is an inherited disorder of L-isoleucine metabolism due to mutations in the ACADSB gene. The role of current diagnostic biomarkers [i.e., blood 2-methylbutyrylcarnitine (C5) and urine 2-methylbutyrylglycine (2MBG)] in pati...

Descripción completa

Detalles Bibliográficos
Autores principales:	Rossi, Alessandro, Turturo, Mariagrazia, Albano, Lucia, Fecarotta, Simona, Barretta, Ferdinando, Crisci, Daniela, Gallo, Giovanna, Perfetto, Rosa, Uomo, Fabiana, Vallone, Fabiana, Villani, Guglielmo, Strisciuglio, Pietro, Parenti, Giancarlo, Frisso, Giulia, Ruoppolo, Margherita
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Pediatrics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9485620/ https://www.ncbi.nlm.nih.gov/pubmed/36147814 http://dx.doi.org/10.3389/fped.2022.895921

Ejemplares similares

Hypermethioninemia in Campania: Results from 10 years of newborn screening
por: Villani, Guglielmo R.D., et al.
Publicado: (2019)

Contribution of Genetic Test to Early Diagnosis of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: The Experience of a Reference Center in Southern Italy
por: Barretta, Ferdinando, et al.
Publicado: (2023)

Hepatic Presentation of Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Case Report and Systematic Review
por: Siano, Maria Anna, et al.
Publicado: (2021)

Biochemical and molecular characterization of 3-Methylcrotonylglycinuria in an Italian asymptomatic girl
por: Cozzolino, Carla, et al.
Publicado: (2018)

Beneficial Effects of Slow-Release Large Neutral Amino Acids after a Phenylalanine Oral Load in Patients with Phenylketonuria
por: Scala, Iris, et al.
Publicado: (2021)

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)

Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method
por: Barretta, Ferdinando, et al.
Publicado: (2023)

Structural basis for substrate specificity of methylsuccinyl-CoA dehydrogenase, an unusual member of the acyl-CoA dehydrogenase family
por: Schwander, Thomas, et al.
Publicado: (2018)

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)

Pancreatitis in multiple acyl CoA dehydrogenase deficiency: An underdiagnosed complication
por: Elkhateeb, Nour, et al.
Publicado: (2020)

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

The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach
por: Catanzano, Francesca, et al.
Publicado: (2010)

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

Diversity and dispersal of a ubiquitous protein family: acyl-CoA dehydrogenases
por: Shen, Yao-Qing, et al.
Publicado: (2009)

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)

Multiple Acyl-CoA Dehydrogenase Deficiency: A Rare Cause of Hepatomegaly
por: Nana Sede Mbakop, Raissa, et al.
Publicado: (2023)

Next-Generation Sequencing Gene Panels in Inheritable Cardiomyopathies and Channelopathies: Prevalence of Pathogenic Variants and Variants of Unknown Significance in Uncommon Genes
por: Mazzaccara, Cristina, et al.
Publicado: (2022)

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

Combined isobutyryl‐CoA and multiple acyl‐CoA dehydrogenase deficiency in a boy with altered riboflavin homeostasis
por: Tummolo, Albina, et al.
Publicado: (2022)

P-14 Multiple acyl-coa dehydrogenase deficiency: a possibly treatable condition
por: Todeschini, A., et al.
Publicado: (2011)

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)

Impaired fat oxidation during exercise in multiple acyl‐CoA dehydrogenase deficiency
por: Madsen, Karen L., et al.
Publicado: (2019)

Characterization of 31 Patients with Riboflavin-Responsive Multiple acyl-CoA Dehydrogenase Deficiency
por: Zhang, Jinru, et al.
Publicado: (2022)

Multiple Acyl-CoA Dehydrogenase Deficiency Presenting as Rhabdomyolysis After Gastrointestinal Endoscopy
por: Liu, Rong-Rong, et al.
Publicado: (2023)

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)

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)

FLAD1‐associated multiple acyl‐CoA dehydrogenase deficiency identified by newborn screening
por: Muru, Kai, et al.
Publicado: (2019)

Maternal vitamin deficiency mimicking multiple acyl-CoA dehydrogenase deficiency on newborn screening
por: Gramer, Gwendolyn, et al.
Publicado: (2021)

Multiple acyl-CoA dehydrogenase deficiency kills Mycobacterium tuberculosis in vitro and during infection
por: Beites, Tiago, et al.
Publicado: (2021)

Medium-Chain Acyl-CoA Dehydrogenase Protects Mitochondria from Lipid Peroxidation in Glioblastoma
por: Puca, Francesca, et al.
Publicado: (2021)

Personalised modelling of clinical heterogeneity between medium-chain acyl-CoA dehydrogenase patients
por: Odendaal, Christoff, et al.
Publicado: (2023)

RICE ACYL-COA-BINDING PROTEIN6 Affects Acyl-CoA Homeostasis and Growth in Rice
por: Meng, Wei, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_ksolns1n94ifdeoanmb73h6qdn