Cargando…

Pulmonary hypertension in late-onset Methylmalonic Aciduria and Homocystinemia: a case report

BACKGROUND: Methylmalonic Aciduria and Homocystinemia, cobalamin C (cblC) is an inherited disease of vitamin B(12) metabolism with a wide spectrum of clinical manifestations. cblC presenting with pulmonary hypertension (PH) as leading sympotom is rare and easily misdiagnosed because of limited aware...

Descripción completa

Detalles Bibliográficos
Autores principales:	Wen, Ling-yi, Guo, Ying-kun, Shi, Xiao-qing
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7243308/ https://www.ncbi.nlm.nih.gov/pubmed/32443968 http://dx.doi.org/10.1186/s12887-020-02130-9

Ejemplares similares

Manic-depressive Psychosis as the Initial Symptom in Adult Siblings with Late-onset Combined Methylmalonic Aciduria and Homocystinemia, Cobalamin C Type
por: Wu, Li-Yong, et al.
Publicado: (2017)

Mouse Models for Methylmalonic Aciduria
por: Peters, Heidi L., et al.
Publicado: (2012)

Renal Involvement in Methylmalonic Aciduria
por: Alkhunaizi, Ahmed M., et al.
Publicado: (2017)

Prospective evaluation of pregnancy outcome in an Italian woman with late-onset combined homocystinuria and methylmalonic aciduria
por: Grandone, Elvira, et al.
Publicado: (2019)

Monitoring Methylmalonic Aciduria by NMR Urinomics
por: Nicolescu, Alina, et al.
Publicado: (2020)

An Expanding Spectrum of Complications in Isolated Methylmalonic Aciduria
por: Forny, Patrick, et al.
Publicado: (2020)

The value of neuroimaging in the assessment and follow-up of early-onset methylmalonic aciduria and homocystinuria()
por: de Benedictis, Fernando M., et al.
Publicado: (2014)

Valproate therapy exacerbating intermediate phenotype of methylmalonic aciduria
por: Murgai, Aditya, et al.
Publicado: (2015)

Acrodermatitis dysmetabolica as a sign of methylmalonic aciduria decompensation
por: Rosa, Joana, et al.
Publicado: (2018)

Methylmalonic and malonic aciduria in a dog with progressive encephalomyelopathy
por: Podell, Michael, et al.
Publicado: (1996)

Brain metabolism and neurological symptoms in combined malonic and methylmalonic aciduria
por: Tucci, Sara
Publicado: (2020)

Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria
por: Marcadier, Julien L, et al.
Publicado: (2013)

The Value of 1H-MRS and MRI in Combined Methylmalonic Aciduria and Homocystinuria
por: Cheng, Ailan, et al.
Publicado: (2019)

Dietary Treatment from Birth to Pregnancy in a Woman with Methylmalonic Aciduria
por: Kowalik, Agnieszka, et al.
Publicado: (2021)

Exome sequencing identifies ACSF3 as the cause of Combined Malonic and Methylmalonic Aciduria
por: Sloan, Jennifer L., et al.
Publicado: (2011)

Insights into energy balance dysregulation from a mouse model of methylmalonic aciduria
por: Lucienne, Marie, et al.
Publicado: (2023)

Comparing amniotic fluid mass spectrometry assays and amniocyte gene analyses for the prenatal diagnosis of methylmalonic aciduria
por: Liu, Yupeng, et al.
Publicado: (2022)

Clinical picture and treatment effects in 5 patients with Methylmalonic aciduria related to MMAA mutations
por: Wesół-Kucharska, Dorota, et al.
Publicado: (2020)

Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria
por: Gabriel, Marie Cosette, et al.
Publicado: (2021)

Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report
por: Brennerová, Katarína, et al.
Publicado: (2021)

Favorable course of previously undiagnosed Methylmalonic Aciduria with Homocystinuria (cblC type) presenting with pulmonary hypertension and aHUS in a young child: a case report
por: De Simone, Luciano, et al.
Publicado: (2018)

Metabolic and genetic assessments interpret unexplained aggressive pulmonary hypertension induced by methylmalonic acidemia: A case report
por: Liao, Hong-Yu, et al.
Publicado: (2020)

Clinical experience with N-carbamylglutamate in a single-centre cohort of patients with propionic and methylmalonic aciduria
por: Burlina, Alberto, et al.
Publicado: (2016)

Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria
por: Forny, Patrick, et al.
Publicado: (2021)

The impact of metabolic stressors on mitochondrial homeostasis in a renal epithelial cell model of methylmalonic aciduria
por: Schumann, Anke, et al.
Publicado: (2023)

Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria
por: Schnabel, Elena, et al.
Publicado: (2023)

Genetic screening in thrombotic microangiopathy: a plea for methylmalonic aciduria with cobalamine C deficiency detection
por: Rafat, Cédric, et al.
Publicado: (2023)

Case report: Is exchange transfusion a possible treatment for metabolic decompensation in neonates with methylmalonic aciduria in the setting of limited resources?
por: Cui, Xiaoyu, et al.
Publicado: (2022)

Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data
por: Chapman, Kimberly A., et al.
Publicado: (2018)

Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull’s Eye Maculopathy
por: Collison, Frederick T., et al.
Publicado: (2015)

Combined Malonic and Methylmalonic Aciduria Diagnosed by Recurrent and Severe Infections Mimicking a Primary Immunodeficiency Disease: A Case Report
por: Lee, Joon Kee, et al.
Publicado: (2023)

SMAD4 Controls Cancer Cell Metabolism by Regulating Methylmalonic Aciduria Cobalamin Deficiency (cbl) B Type
por: Song, Kyoung, et al.
Publicado: (2022)

Resolution of cor pulmonale after medical management in a patient with cblC-type methylmalonic aciduria and homocystinuria: a case report
por: Profitlich, Laurie, et al.
Publicado: (2009)

Isolation and Expression of a cDNA Encoding Methylmalonic Aciduria Type A Protein from Euglena gracilis Z
por: Yabuta, Yukinori, et al.
Publicado: (2013)

A False-Positive Case of Methylmalonic Aciduria by Tandem Mass Spectrometry Newborn Screening Dependent on Maternal Malnutrition in Pregnancy
por: Rossi, Claudia, et al.
Publicado: (2020)

Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients
por: Wang, Ping, et al.
Publicado: (2021)

Case report: Desquamating dermatitis, bilateral cerebellar lesions in a late-onset methylmalonic acidemia patient
por: Chen, Qihua, et al.
Publicado: (2023)

Late-onset argininosuccinic aciduria associated with hyperammonemia triggered by influenza infection in an adolescent: A case report
por: Osawa, Yoshimitsu, et al.
Publicado: (2020)

3-Methylglutaconic Aciduria Type I: A Rare Cause of Late-Onset Leukoencephalopathy
por: Benzoni, Chiara, et al.
Publicado: (2022)

Molecular genetic characterization of cblC defects in 126 pedigrees and prenatal genetic diagnosis of pedigrees with combined methylmalonic aciduria and homocystinuria
por: Hu, Shuang, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_8bn95hbg1hlcn5953fhib0pbli