Cargando…

A novel TCN2 mutation with unusual clinical manifestations of hemolytic crisis and unexplained metabolic acidosis: expanding the genotype and phenotype of transcobalamin II deficiency

BACKGROUND: Transcobalamin deficiency is a rare inborn metabolic disorder, characterized by pancytopenia, megaloblastic anemia, failure to thrive, diarrhea, and psychomotor retardation. CASE PRESENTATION: We describe a patient who first presented at 3 months of age, with pancytopenia, hepatosplenome...

Descripción completa

Detalles Bibliográficos
Autores principales:	Pongphitcha, Pongpak, Sirachainan, Nongnuch, Khongkraparn, Arthaporn, Tim-Aroon, Thipwimol, Songdej, Duantida, Wattanasirichaigoon, Duangrurdee
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9052601/ https://www.ncbi.nlm.nih.gov/pubmed/35488219 http://dx.doi.org/10.1186/s12887-022-03291-5

Ejemplares similares

A Novel Homozygous PKP2 Variant in Severe Neonatal Non-compaction and Concomitant Ventricular Septal Defect: A Case Report
por: Katanyuwong, Poomiporn, et al.
Publicado: (2022)

Screening for ELANE, HAX1 and GFI1 gene mutations in children with neutropenia and clinical characterization of two novel mutations in ELANE gene
por: Komvilaisak, Patcharee, et al.
Publicado: (2023)

MITF variants cause nonsyndromic sensorineural hearing loss with autosomal recessive inheritance
por: Thongpradit, Supranee, et al.
Publicado: (2020)

RARE-38. CLINICAL PRESENTATION OF MGA-NUTM1 FUSION TRANSCRIPT SARCOMA
por: Pongphitcha, Pongpak, et al.
Publicado: (2020)

Gaucher disease: clinical phenotypes and refining GBA mutational spectrum in Thai patients
por: Phetthong, Tim, et al.
Publicado: (2021)

LGG-06. LONG-TERM OUTCOME OF NEWLY DIAGNOSED LOW GRADE GLIOMA
por: Sirachainan, Nongnuch, et al.
Publicado: (2020)

Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand
por: Ngiwsara, Lukana, et al.
Publicado: (2019)

Novel SOX10 Mutations in Waardenburg Syndrome: Functional Characterization and Genotype-Phenotype Analysis
por: Thongpradit, Supranee, et al.
Publicado: (2020)

Clinicopathological Analysis and Prognostic Assessment of Transcobalamin I (TCN1) in Patients with Colorectal Tumors
por: Zhu, Xinqiang, et al.
Publicado: (2020)

Identification of Alpha Thalassemia, RNF213 p.R4810K and PROC p.R189W among Children with Moyamoya Disease/Syndrome
por: Thampratankul, Lunliya, et al.
Publicado: (2022)

Correction to: Perspectives of adults with Klinefelter syndrome, unaffected adolescent males, and parents of affected children toward diagnosis disclosure: a Thai experience
por: Suwannachat, Sukrit, et al.
Publicado: (2019)

Perspectives of adults with Klinefelter syndrome, unaffected adolescent males, and parents of affected children toward diagnosis disclosure: a Thai experience
por: Suwannachat, Sukrit, et al.
Publicado: (2019)

Parental Awareness, Knowledge, and Attitudes Regarding Current and Future Newborn Bloodspot Screening: The First Report from Thailand
por: Wilaiwongsathien, Kalyarat, et al.
Publicado: (2023)

PROC Promoter Single Nucleotide Polymorphisms Associated With Low Protein C Activity But Not Increased Risk of Thromboembolism in Pediatric Population
por: Udomkittivorakul, Natsumon, et al.
Publicado: (2020)

Case report: Novel compound-heterozygous mutations in the TCN2 gene identified in a chinese girl with transcobalamin deficiency
por: Luo, Juan, et al.
Publicado: (2022)

Growth charts for Thai children with Prader-Willi syndrome aged 0–18 years
por: Mongkollarp, Nantiya, et al.
Publicado: (2020)

Etiologies, Prognostic Factors, and Outcomes of Pediatric Acute Liver Failure in Thailand
por: Getsuwan, Songpon, et al.
Publicado: (2020)

Association of Mitochondrial DNA Polymorphisms With Pediatric-Onset Cyclic Vomiting Syndrome
por: Veenin, Kirana, et al.
Publicado: (2022)

Compound Heterozygote of Point Mutation and Chromosomal Microdeletion Involving OTUD6B Coinciding with ZMIZ1 Variant in Syndromic Intellectual Disability
por: Phetthong, Tim, et al.
Publicado: (2021)

Identification of transcobalamin deficiency with two novel mutations in the TCN2 gene in a Chinese girl with abnormal immunity: a case report
por: Zhan, Shihong, et al.
Publicado: (2020)

Case report: Severe nonketotic hyperglycinemia in a neonate without apparent seizures but concomitant cleft palate and cerebral sinovenous thrombosis
por: Thewamit, Rapeepat, et al.
Publicado: (2023)

Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients
por: Tim-Aroon, Thipwimol, et al.
Publicado: (2021)

No differences in hemostatic and endothelial activations between haploidentical and matched-donor hematopoietic stem cell transplantation in thalassemia disease
por: Lertthammakiat, Surapong, et al.
Publicado: (2020)

Mouse Transcobalamin Has Features Resembling both Human Transcobalamin and Haptocorrin
por: Hygum, Katrine, et al.
Publicado: (2011)

Long-term outcome of a patient with Transcobalamin deficiency caused by the homozygous c.1115_1116delCA mutation in TCN2 gene: a case report
por: Martino, Francesco, et al.
Publicado: (2021)

Clinical delineation of 18q11‐q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects
por: Rojnueangnit, Kitiwan, et al.
Publicado: (2019)

Enterovirus 71-Induced Autoimmune Hemolytic Anemia in a Boy
por: Pattanakitsakul, Ploy, et al.
Publicado: (2022)

Epidermolysis Bullosa With Congenital Absence of Skin: Congenital Corneal Cloudiness and Esophagogastric Obstruction Including Extended Genotypic Spectrum of PLEC, LAMC2, ITGB4 and COL7A1
por: Pongmee, Pharuhad, et al.
Publicado: (2022)

Genotype-phenotype association and biochemical analyses of glucose-6-phosphate dehydrogenase variants: Implications for the hemolytic risk of using 8-aminoquinolines for radical cure
por: Sudsumrit, Sirapapha, et al.
Publicado: (2022)

Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder
por: Hnoonual, Areerat, et al.
Publicado: (2017)

Characterization of a monoclonal antibody with specificity for holo-transcobalamin
por: Orning, Lars, et al.
Publicado: (2006)

Transcobalamin II Deficiency in Four Cases with Novel Mutations
por: Ünal, Şule, et al.
Publicado: (2015)

Transcobalamin II Deficiency in an Infant with a Novel Mutation
por: Toret, Ersin, et al.
Publicado: (2022)

Structural basis of transcobalamin recognition by human CD320 receptor
por: Alam, Amer, et al.
Publicado: (2016)

Structure of the human transcobalamin beta domain in four distinct states
por: Bloch, Joël S., et al.
Publicado: (2017)

Hematopoietic stem cell transplantation from an infected SARS-CoV2 donor sibling
por: Anurathapan, Usanarat, et al.
Publicado: (2020)

Genetic Analysis of Peroxisomal Genes Required for Longevity in a Yeast Model of Citrin Deficiency
por: Chalermwat, Chalongchai, et al.
Publicado: (2020)

Starvation Ketoacidosis as a Cause of Unexplained Metabolic Acidosis in the Perioperative Period
por: Mostert, Monique, et al.
Publicado: (2016)

Electricity price forecast based on the STL-TCN-NBEATS model
por: Zhang, Biao, et al.
Publicado: (2023)

Kinetic analysis of transcellular passage of the cobalamin–transcobalamin complex in Caco-2 monolayers
por: Juul, Christian B., et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_4reldaj2rmbkqf872cnihtm0fv