Results 31 to 40 of about 1,993 (190)

Versatile enzymology and heterogeneous phenotypes in cobalamin complementation type C disease

iScience, 2022
Summary: Nutritional deficiency and genetic errors that impair the transport, absorption, and utilization of vitamin B12 (B12) lead to hematological and neurological manifestations.
Anna J. Esser, Srijan Mukherjee, Ilia A. Dereven’kov, Sergei V. Makarov, Donald W. Jacobsen, Ute Spiekerkoetter, Luciana Hannibal   +6 more
doaj   +1 more source

Case report: A late-onset cobalamin C defect first presenting as a depression in a teenager

Frontiers in Genetics, 2022
Background: The cobalamin C (cblC) defect, a common inborn disorder of cobalamin metabolism due to a genetic mutation in MMACHC, can cause combined methylmalonic acid and homocysteine accumulation in blood, urine, or both.
Siqi Cheng, Weihong Chen, Mingmin Zhao, Xing Xing, Lei Zhao, Bowen Ren, Na Li   +6 more
doaj   +1 more source

Multiple sclerosis and intracellular cobalamin defect (MMACHC/PRDX1) comorbidity in a young male

Molecular Genetics and Metabolism Reports, 2020
Background: Methylmalonic acidaemia with homocystinuria type C (cblC defect) is an inherited error of cobalamin metabolism. Cobalamin deficient processing results in high levels of methylmalonic acid and homocysteine.
Luca Pollini, Manuela Tolve, Francesca Nardecchia, Serena Galosi, Claudia Carducci, Emanuele di Carlo, Carla Carducci, Vincenzo Leuzzi   +7 more
doaj   +1 more source

PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations [PDF]

, 2021
International audienceBackground: The role of epigenetics in inborn errors of metabolism (IEMs) is poorly investigated. Epigenetic changes can contribute to clinical heterogeneity of affected patients but could also be underestimated determining factors ...
Menni, Francesca, Oussalah, Abderrahim, Furlan, Francesca, Gozzini, Alessia, Morrone, Amelia, Cavicchi, Catia, Motta, Serena, Morange, Pierre-Emmanuel, Cavicchi, C., La Marca, G., Guéant, Jean-Louis, La Marca, Giancarlo, Tregouet, David, Ferri, Lorenzo, Daniotti, Marta, Chery, Céline, Morrone, A., Tummolo, Albina, Meli, Concetta, Guerrini, Renzo, Parenti, Giancarlo, Falliano, Silvia, Malvagia, Sabrina, Gasperini, Serena, Rigoldi, Miriam, Guerrini, R., Donati, Maria, Alice, Serena Gasperini, Alessia Gozzini, Abderrahim Oussalah, Jean-Louis Guéant, Miriam Rigoldi, Albina Tummolo, Concetta Meli, Giancarlo la Marca, Giancarlo Parenti, Marta Daniotti, Lorenzo Ferri, David Tregouet, Francesca Furlan, Serena Motta, Amelia Morrone, Silvia Falliano, Sabrina Malvagia, Maria Alice Donati, Céline Chery, Donati, Maria,, Renzo Guerrini, Pierre-Emmanuel Morange, Catia Cavicchi, Francesca Menni   +50 more
core   +1 more source

Peripheral Nervous System Involvement in Late-Onset Cobalamin C Disease?

Frontiers in Neurology, 2020
Background: Cobalamin C (cblC) has a fundamental role in both central and peripheral nervous system function at any age. Neurologic manifestations may be the earliest and often the only manifestation of hereditary or acquired cblC defect.
Xujun Chu, Lingchao Meng, Wei Zhang, Jinjun Luo, Zhaoxia Wang, Yun Yuan   +5 more
doaj   +1 more source

Noninvasive Prenatal Testing of Methylmalonic Acidemia cblC Type Using the cSMART Assay for MMACHC Gene Mutations

Frontiers in Genetics, 2022
Noninvasive prenatal testing (NIPT) for monogenic disorders has been developed in recent years; however, there are still significant technical and analytical challenges for clinical use.
Weigang Lv, Lili Liang, Xin Chen, Zhuo Li, Desheng Liang, Huimin Zhu, Yanling Teng, Weijuan Wu, Lingqian Wu, Lianshu Han   +9 more
doaj   +1 more source

Hydroxocobalamin dose escalation improves metabolic control in cblC [PDF]

Journal of Inherited Metabolic Disease, 2009
SummaryCobalamin C (cblC), a combined form of methylmalonic acidaemia and hyperhomocysteinaemia, is recognized as the most frequent inborn error of intracellular cobalamin metabolism. This condition can be detected by expanded newborn screening and can have an acute neonatal presentation that is life‐threatening if not suspected and promptly treated ...
N, Carrillo-Carrasco, J, Sloan, D, Valle, A, Hamosh, C P, Venditti   +4 more
openaire   +2 more sources

Case report: Desquamating dermatitis, bilateral cerebellar lesions in a late-onset methylmalonic acidemia patient

Frontiers in Neurology, 2023
IntroductionCobalamin C (cblC) deficiency is a rare hereditary disorder affecting intracellular cobalamin metabolism, primarily caused by mutations in MMACHC.
Qihua Chen, Jianguang Tang, Hainan Zhang, Lixia Qin   +3 more
doaj   +1 more source

Late-onset cblC defect: clinical, biochemical and molecular analysis

Orphanet Journal of Rare Diseases, 2023
Abstract Background cblC defect is the most common type of methylmalonic acidemia in China. Patients with late-onset form (>1 year) are often misdiagnosed due to heterogeneous symptoms. This study aimed to describe clinical characteristics and evaluate long-term outcomes of Chinese patients with late-onset cblC defect.
Si Ding, Shiying Ling, Lili Liang, Wenjuan Qiu, Huiwen Zhang, Ting Chen, Xia Zhan, Feng Xu, Xuefan Gu, Lianshu Han   +9 more
openaire   +3 more sources

Adult-onset combined methylmalonic aciduria and homocystinuria (cblC)

Neurology, 2001
A 20-year-old man was admitted to our service with bilateral paraplegia of the legs, loss of bowel and bladder function, and chronic progressive encephalopathy. He had been well until a year prior to admission when he developed a slowly progressive leg weakness with loss of bowel and bladder control. Subsequently he developed episodes of forgetfulness,
Bodamer, O. A. F., Rosenblatt, David S., Appel, S. H., Beaudet, A. L.   +3 more
openaire   +3 more sources