Cargando…

Medium-Chain Acyl-CoA Deficiency: Outlines from Newborn Screening, In Silico Predictions, and Molecular Studies

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is a disorder of fatty acid oxidation characterized by hypoglycemic crisis under fasting or during stress conditions, leading to lethargy, seizures, brain damage, or even death. Biochemical acylcarnitines data obtained through newborn screening...

Descripción completa

Detalles Bibliográficos
Autores principales:	Catarzi, Serena, Caciotti, Anna, Thusberg, Janita, Tonin, Rodolfo, Malvagia, Sabrina, la Marca, Giancarlo, Pasquini, Elisabetta, Cavicchi, Catia, Ferri, Lorenzo, Donati, Maria A., Baronio, Federico, Guerrini, Renzo, Mooney, Sean D., Morrone, Amelia
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi Publishing Corporation 2013
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3833120/ https://www.ncbi.nlm.nih.gov/pubmed/24294134 http://dx.doi.org/10.1155/2013/625824

Ejemplares similares

Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutation
por: Tonin, Rodolfo, et al.
Publicado: (2016)

Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly–Gly mutation causing loss of an Exonic Splicing Enhancer
por: Tonin, Rodolfo, et al.
Publicado: (2018)

High frequency of biotinidase deficiency in Italian population identified by newborn screening
por: Funghini, Silvia, et al.
Publicado: (2020)

Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotype
por: Lovera, Cristina, et al.
Publicado: (2012)

Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment
por: Cavicchi, Catia, et al.
Publicado: (2014)

Galactosialidosis: review and analysis of CTSA gene mutations
por: Caciotti, Anna, et al.
Publicado: (2013)

New clinical and molecular insights on Barth syndrome
por: Ferri, Lorenzo, et al.
Publicado: (2013)

Fluorescent In Situ Staining and Flow Cytometric Procedures as New Pre-Diagnostic Tests for Sialidosis, GM1 Gangliosidosis and Niemann–Pick Type C
por: Capitini, Claudia, et al.
Publicado: (2022)

Double-target Antisense U1snRNAs Correct Mis-splicing Due to c.639+861C>T and c.639+919G>A GLA Deep Intronic Mutations
por: Ferri, Lorenzo, et al.
Publicado: (2016)

SARS-CoV-2 infection in a patient with propionic acidemia
por: Caciotti, Anna, et al.
Publicado: (2020)

PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations
por: Cavicchi, Catia, et al.
Publicado: (2021)

Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature
por: Cavicchi, Catia, et al.
Publicado: (2018)

Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease
por: Caciotti, Anna, et al.
Publicado: (2018)

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

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

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)

Fatty acyl-CoA reductases of birds
por: Hellenbrand, Janine, et al.
Publicado: (2011)

A chemical catalyst enabling histone acylation with endogenous acyl-CoA
por: Habazaki, Misuzu, 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)

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

Acyl-CoA-dependent and acyl-CoA-independent avocado acyltransferases positively influence oleic acid content in nonseed triacylglycerols
por: Behera, Jyoti, et al.
Publicado: (2023)

Fatty Acyl-CoA Reductase 1 Deficiency
por: Swisher, Charles N.
Publicado: (2015)

The Physiological and Pathological Role of Acyl-CoA Oxidation
por: Szrok-Jurga, Sylwia, et al.
Publicado: (2023)

A Liver-Specific Defect of Acyl-CoA Degradation Produces Hyperammonemia, Hypoglycemia and a Distinct Hepatic Acyl-CoA Pattern
por: Gauthier, Nicolas, et al.
Publicado: (2013)

Erratum: Acyl-CoA-dependent and acyl-CoA-independent avocado acyltransferases positively influence oleic acid content in nonseed triacylglycerols
Publicado: (2023)

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

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)

Bivalent recognition of fatty acyl-CoA by a human integral membrane palmitoyltransferase
por: Lee, Chul-Jin, et al.
Publicado: (2022)

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)

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)

Metabolic and Tissue-Specific Regulation of Acyl-CoA Metabolism
por: Ellis, Jessica M., et al.
Publicado: (2015)

Compartmentalised acyl-CoA metabolism and roles in chromatin regulation
por: Trefely, Sophie, et al.
Publicado: (2020)

Functional Effects of Different Medium-Chain Acyl-CoA Dehydrogenase Genotypes and Identification of Asymptomatic Variants
por: Sturm, Marga, et al.
Publicado: (2012)

Clinical, Biochemical, and Molecular Analyses of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients
por: Gong, Zhuwen, et al.
Publicado: (2021)

The Roles of Coenzyme A Binding Pocket Residues in Short and Medium Chain Acyl-CoA Synthetases
por: Meng, Yu, et al.
Publicado: (2023)

Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content
por: Tonin, Rodolfo, et al.
Publicado: (2019)

Clinical, Biochemical and Genetic Analyses in Two Korean Patients with Medium-chain Acyl-CoA Dehydrogenase Deficiency
por: Woo, Hye In, et al.
Publicado: (2011)

Cannot write session to /tmp/vufind_sessions/sess_614n4hqn045v7c04f8qbciu4r7