Cargando…

A Novel Mutation in the OXCT1 Gene Causing Succinyl-CoA:3-Ketoacid CoA Transferase (SCOT) Deficiency Starting with Neurologic Manifestations

Succinyl-CoA:3-oxoacid CoA-transferase (SCOT) deficiency is an inborn error of ketone body utilization characterized by intermittent ketoacidosis crises. This study reports the first Iranian patient with SCOT deficiency who presented with seizure and hypotonia at birth. Accordingly, she was conseque...

Descripción completa

Detalles Bibliográficos
Autores principales:	AMIRKASHANI, Davoud, ASADOLLAHI, Mostafa, HOSSEINI, Rozita, TALEBI, Saeed, GOLCHEHRE, Zahra, KERAMATIPOUR, Mohammad
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Shahid Beheshti University of Medical Sciences 2023
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10114279/ https://www.ncbi.nlm.nih.gov/pubmed/37091464 http://dx.doi.org/10.22037/ijcn.v17i2.35963

Ejemplares similares

A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency
por: Shafqat, Naeem, et al.
Publicado: (2013)

Clinical variability and outcome of succinyl‐CoA:3‐ketoacid CoA transferase deficiency caused by a single OXCT1 mutation: Report of 17 cases
por: Alghamdi, Malak A., et al.
Publicado: (2021)

A case of severe acidosis in a 12-month-old: Succinyl-CoA:3-ketoacid-CoA transferase deficiency with OXCT1 gene mutations
por: Dhammi, Navjot, et al.
Publicado: (2022)

A Rare Cause of Life-Threatening Ketoacidosis: Novel Compound Heterozygous OXCT1 Mutations Causing Succinyl-CoA:3-Ketoacid CoA Transferase Deficiency
por: Kim, Young A, et al.
Publicado: (2019)

Succinyl-CoA:Mesaconate CoA-Transferase and Mesaconyl-CoA Hydratase, Enzymes of the Methylaspartate Cycle in Haloarcula hispanica
por: Borjian, Farshad, et al.
Publicado: (2017)

Functional Dissection of the Bipartite Active Site of the Class I Coenzyme A (CoA)-Transferase Succinyl-CoA:Acetate CoA-Transferase
por: Murphy, Jesse R., et al.
Publicado: (2016)

Supramolecular assembly of KAT2A with succinyl-CoA for histone succinylation
por: Wang, Yugang, et al.
Publicado: (2018)

Identification of the kinetic mechanism of succinyl-CoA synthetase
por: Li, Xin, et al.
Publicado: (2013)

Succinyl-CoA:acetate CoA-transferase functioning in the oxidative tricarboxylic acid cycle in Desulfurella acetivorans
por: Pettinato, Eugenio, et al.
Publicado: (2022)

Localization and nucleotide specificity of Blastocystis succinyl-CoA synthetase
por: Hamblin, Karleigh, et al.
Publicado: (2008)

Succinyl-CoA Synthetase: New Antigen Candidate of Bartonella bacilliformis
por: Gomes, Cláudia, et al.
Publicado: (2016)

Succinyl-CoA-based energy metabolism dysfunction in chronic heart failure
por: Takada, Shingo, et al.
Publicado: (2022)

Structural analysis of an endogenous 4-megadalton succinyl-CoA-generating metabolon
por: Skalidis, Ioannis, et al.
Publicado: (2023)

Enhancing the Substrate Specificity of Clostridium Succinyl-CoA Reductase for Synthetic Biology and Biocatalysis
por: Pfister, Pascal, et al.
Publicado: (2023)

Engineering Nucleotide Specificity of Succinyl-CoA Synthetase in Blastocystis: The Emerging Role of Gatekeeper Residues
por: Vashisht, Kapil, et al.
Publicado: (2016)

Fusion of the subunits α and β of succinyl-CoA synthetase as a phylogenetic marker for Pezizomycotina fungi
por: Koire, Amanda M., et al.
Publicado: (2011)

The nucleotide specificity of succinyl‐CoA synthetase of Plasmodium falciparum is not determined by charged gatekeeper residues alone
por: Vashisht, Kapil, et al.
Publicado: (2021)

Loss of succinyl-CoA synthetase in mouse forebrain results in hypersuccinylation with perturbed neuronal transcription and metabolism
por: Lancaster, Makayla S., et al.
Publicado: (2023)

Vitamin B5 and succinyl-CoA improve ineffective erythropoiesis in SF3B1 mutated myelodysplasia
por: Mian, Syed A, et al.
Publicado: (2023)

Succinyl-CoA Synthetase Dysfunction as a Mechanism of Mitochondrial Encephalomyopathy: More than Just an Oxidative Energy Deficit
por: Lancaster, Makayla S., et al.
Publicado: (2023)

Targeting hydroxycinnamoyl CoA: shikimate hydroxycinnamoyl transferase for lignin modification in Brachypodium distachyon
por: Serrani-Yarce, Juan Carlos, et al.
Publicado: (2021)

The Pathophysiological Role of CoA
por: Czumaj, Aleksandra, et al.
Publicado: (2020)

CoA in Health and Disease
por: Dobrzyn, Pawel
Publicado: (2022)

Loss of succinyl-CoA synthase ADP-forming β subunit disrupts mtDNA stability and mitochondrial dynamics in neurons
por: Zhao, Yujun, et al.
Publicado: (2017)

Screening Phosphorylation Site Mutations in Yeast Acetyl-CoA Carboxylase Using Malonyl-CoA Sensor to Improve Malonyl-CoA-Derived Product
por: Chen, Xiaoxu, et al.
Publicado: (2018)

3‐Hydroxyisobutyryl‐CoA hydrolase deficiency in an Iranian child with novel HIBCH compound heterozygous mutations
por: Karimzadeh, Parvaneh, et al.
Publicado: (2019)

Lack of Ach1 CoA-Transferase Triggers Apoptosis and Decreases Chronological Lifespan in Yeast
por: Orlandi, Ivan, et al.
Publicado: (2012)

Three CoA Transferases Involved in the Production of Short Chain Fatty Acids in Porphyromonas gingivalis
por: Sato, Mitsunari, et al.
Publicado: (2016)

Structural Basis for a Cork-Up Mechanism of the Intra-Molecular Mesaconyl-CoA Transferase
por: Pfister, Pascal, et al.
Publicado: (2022)

Enoyl-CoA hydratase/3-hydroxyacyl CoA dehydrogenase is essential for the production of DHA in zebrafish
por: Yang, Gang, et al.
Publicado: (2022)

Succinyl-CoA ligase ADP-forming subunit beta promotes stress granule assembly to regulate redox and drive cancer metastasis
por: Boese, Austin C., et al.
Publicado: (2023)

Intracellular APP Domain Regulates Serine-Palmitoyl-CoA Transferase Expression and Is Affected in Alzheimer's Disease
por: Grimm, Marcus O. W., et al.
Publicado: (2011)

Characterization and functional analysis of the Hydroxycinnamoyl-CoA: shikimate hydroxycinnamoyl transferase (HCT) gene family in poplar
por: Chao, Nan, et al.
Publicado: (2021)

Acetyl-CoA Carboxylases and Diseases
por: Wang, Yu, et al.
Publicado: (2022)

Quantification of lactoyl-CoA (lactyl-CoA) by liquid chromatography mass spectrometry in mammalian cells and tissues
por: Varner, Erika L., et al.
Publicado: (2020)

Enzymes Catalyzing Crotonyl-CoA Conversion to Acetoacetyl-CoA During the Autotrophic CO(2) Fixation in Metallosphaera sedula
por: Liu, Li, et al.
Publicado: (2020)

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)

High-throughput mapping of CoA metabolites by SAMDI-MS to optimize the cell-free biosynthesis of HMG-CoA
por: O’Kane, Patrick T., et al.
Publicado: (2019)

Phenolic metabolism in the hornwort Anthoceros agrestis: 4-coumarate CoA ligase and 4-hydroxybenzoate CoA ligase
por: Wohl, Julia, 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)

Cannot write session to /tmp/vufind_sessions/sess_vv20cmg0p2kj0q1tscepg1r10d