Results 1 to 10 of about 452,408 (160)

Long-Term Outcome of CblC Deficiency Complicated With Pulmonary Hypertension [PDF]

Orphanet Journal of Rare Diseases
Objective Pulmonary Hypertension (PH) in patients with cblC deficiency is one of the rare but lethal complications. This study aimed to described its characteristics and long-term outcome.
Yongxing Chen, Lianshu Han, Xianting Jiao   +2 more
exaly   +6 more sources

Late-Onset cblC Deficiency Around Puberty: A Retrospective Study of the Clinical Characteristics, Diagnosis, and Treatment [PDF]

Orphanet Journal of Rare Diseases, 2022
Background cblC deficiency is the most common type of methylmalonic aciduria in China. Late-onset patients present with various non-specific symptoms and are usually misdiagnosed.
Ruxuan He, Yanling Yang, Jianguang Qi
exaly   +5 more sources

Analysis of hydroxocobalamin dosage in patients with CblC deficiency [PDF]

Orphanet Journal of Rare Diseases
Objective cblC deficiency is the most common organic acidemia in China. Hydroxocobalamin (OHCbl) is the main important therapeutic approach, while no approved protocols on its dosage during stable periods exist.
Si Ding, Yuxin Deng, Yi Ding, Lili Hao, Wenjuan Qiu, Huiwen Zhang, Lili Liang, Ting Chen, Xia Zhan, Peng Xu, Chiju Yang, Hui Zou, Yongxing Chen, Shengnan Wu, Yufeng Wang, Min Yang, Xuefan Gu, Xianting Jiao, Lianshu Han   +18 more
doaj   +5 more sources

Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists [PDF]

Orphanet Journal of Rare Diseases, 2022
Background Methylmalonic aciduria and homocystinuria, CblC type (OMIM #277400) is the most common disorder of cobalamin intracellular metabolism, an autosomal recessive disease, whose biochemical hallmarks are hyperhomocysteinemia, methylmalonic aciduria
Silvia Kalantari, Brigida Brezzi, Valeria Bracciamà, Antonella Barreca, Paolo Nozza, Tiziana Vaisitti, Antonio Amoroso, Silvia Deaglio, Marco Manganaro, Francesco Porta, Marco Spada   +10 more
doaj   +7 more sources

Three Main Causes of Homocystinuria: CBS, cblC and MTHFR Deficiency. What Do They Have in Common? [PDF]

Journal of Inborn Errors of Metabolism and Screening, 2019
Genetic homocystinurias are a group of inborn errors of metabolism that result in the massive excretion of homocysteine (Hcy) in the urine due to Hcy accumulation in the body, usually causing neurological and cardiovascular complications.
Henk J Blom, Ida Vanessa D Schwartz, Giovana R Weber Hoss   +2 more
exaly   +6 more sources

A Case of Vitamin B12 Deficiency Neurological Syndrome in a Young Adult Due to Late-Onset Cobalamin C (CblC) Deficiency: A Diagnostic Challenge [PDF]

Biochemia Medica, 2022
Vitamin B12 deficiency can present with neurologic and psychiatric symptoms without macrocytic anaemia. We describe a case of late-onset cobalamin C deficiency which typically presents with normal serum vitamin B12 concentrations, posing an additional diagnostic challenge.
Rik Vandenberghe, Pieter Vermeersch, David Cassiman   +2 more
exaly   +7 more sources

Milder Form of Cobalamin C Disease May Be Missed by Newborn Screening: The Importance of Methylmalonic Acid Assessment [PDF]

International Journal of Neonatal Screening
CblC deficiency is the most common intracellular disorder of vitamin B12 metabolism. Expanded newborn screening (NBS) plays a key role in early diagnosis, allowing timely treatment and preventing serious complications.
Francesca Nardecchia, Agnese De Giorgi, Silvia Santagata, Teresa Giovanniello, Manuela Tolve, Antonio Angeloni, Vincenzo Leuzzi, Francesco Pisani, Claudia Carducci   +8 more
doaj   +3 more sources

Late-onset renal TMA and tubular injury in cobalamin C disease: a report of three cases and literature review [PDF]

BMC Nephrology
Background Mutation of MMACHC gene causes cobalamin C disease (cblC), an inherited metabolic disorder, which presents as combined methylmalonic aciduria (MMA-uria) and hyperhomocysteinaemia in clinical. Renal complications may also be present in patients
Daorina Bao, Hongyu Yang, Yanqi Yin, Suxia Wang, Yang Li, Xin Zhang, Tao Su, Rong Xu, Chunyue Li, Fude Zhou   +9 more
doaj   +3 more sources

Epimutation of MMACHC Compound to a Genetic Mutation in cblC Cases

Molecular Genetics & Genomic Medicine, 2021
Background Methylmalonic aciduria (MMA) combined with homocystinuria, cobalamin(cbl)C deficiency type (OMIM 277400), is the most common autosomal recessive inherited disorder of intracellular cobalamin metabolism caused by mutations in the MMACHC gene ...
Haiyan Wei, Yaodong Zhang, Yongxing Chen
exaly   +2 more sources

Clinical diagnosis, treatment, and genetic analysis of adolescent onset holocarboxylase synthetase deficiency and cobalamin C deficiency: A case report and literature review [PDF]

Metabolism Open
Background: Holocarboxylase Synthetase Deficiency (HCSD) is an uncommon autosomal recessive genetic disorder that manifests with symptoms such as metabolic acidosis, lethargy, hypotonia, seizures, and persistent rashes, typically emerging during infancy.
Ye Ren, Hongxing Dang, Yueqiang Fu, Chengjun Liu, Jing Li, Jinhua Cai   +5 more
doaj   +2 more sources