Results 71 to 80 of about 1,339 (150)

Analysis of clinical phenotype and genetic mutation with outcome evaluation in one family of vitamin B12-dependent methylmalonic aciduria

Chinese Journal of Contemporary Neurology and Neurosurgery, 2017
Objective To explore the clinical features, genetic mutation and vitamin B12 therapeutive effectiveness in vitamin B12-dependent methylmalonic acidemia (MMA).
LI Jing, Yi-ming SUN, Li-yu OU, Yu-ling ZHU, Liang WANG, Huan LI, Cheng ZHANG   +6 more
doaj  

Methylmalonic acidemia with homocystinemia causing subacute combined degeneration of the spinal cord : a case report [PDF]

Linchuang erke zazhi
Methylmalonic acidemia (MMA) is a relatively common inherited organic acid disorder. However, MMA-associated subacute combined degeneration of the spinal cord (SCD) in pediatric patients remains exceedingly rare, with insidious onset and high risk of ...
CHEN Liuwang, LIU Pan, XI Rongjuan, ZHANG Xianxia, ZHANG Yi, WEI Xingjiao, SU Min, YANG Yonghong, FU Yangxi
doaj   +1 more source

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

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   +1 more source

Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study

Orphanet Journal of Rare Diseases
Background Methylmalonic aciduria (MMA) is a group of rare genetic metabolic disorders resulting from defects in methylmalonyl coenzyme A mutase (MCM) or intracellular cobalamin (cbl) metabolism.
Ling Su, Huiying Sheng, Xiuzhen Li, Yanna Cai, Huifen Mei, Jing Cheng, Duan Li, Zhikun Lu, Yunting Lin, Xiaodan Chen, Minzhi Peng, Yonglan Huang, Wen Zhang, Li Liu   +13 more
doaj   +1 more source

Generation of human pluripotent stem cell lines (WAe009-A) with THAP11F80L cobalamin disorder-associated mutation

Stem Cell Research
Recent studies reported that the mutation in the THAP11 gene (THAP11F80L) could be responsible for the inborn vitamin deficiency known as cobalamin disorder, by affecting the expression of the enzyme MMACHC, key in the cobalamin metabolism.
Yiren Qin, Carlos Godoy-Parejo, Marta Skowronska, Angela Verma, Marion Dejosez, Thomas P. Zwaka   +5 more
doaj   +1 more source

Improving methylmalonic acidemia (MMA) screening and MMA genotype prediction using random forest classifier in two Chinese populations

European Journal of Medical Research
Background Methylmalonic acidemia (MMA) is one of the most common hereditary organic acid metabolism disorders that endangers the lives and health of infants and children.
Zhe Yin, Chuan Zhang, Rui Dong, Xinyuan Zhang, Yingnan Song, Shengju Hao, Zhongtao Gai, Bingbo Zhou, Ling Hui, Shifan Wang, Huiqin Xue, Zongfu Cao, Yi Liu, Xu Ma   +13 more
doaj   +1 more source

Case presentation: a severe case of cobalamin c deficiency presenting with nephrotic syndrome, malignant hypertension and hemolytic anemia

BMC Nephrology
Background The etiology of nephrotic syndrome can vary, with underlying metabolic diseases being a potential factor. Cobalamin C (cblC) defect is an autosomal recessive inborn error of metabolism caused by mutations in the MMACHC gene, resulting in ...
Halil Tuna Akar, Harun Yıldız, Zeynelabidin Öztürk, Deniz Karakaya, Abdullah Sezer, Asburçe Olgaç   +5 more
doaj   +1 more source

Rapid diagnosis, treatment and follow-up of pedigrees with late-onset methylmalonic aciduria and homocystinuria cobalamin C type

Chinese Journal of Contemporary Neurology and Neurosurgery, 2019
Objective To summarize phenotype, treatment principles and prognosis of 4 patients from 2 pedigrees with late-onset methylmalonic aciduria (MMA) and homocystinuria cobalamin C (cblC) type, so as to explore the pathophysiological mechanism of this disease.
Xiao-hui DUAN, Ying HAO, Wei-hong GU, Jin ZHANG, Ren-bin WANG   +4 more
doaj  

Neonatal-onset cblC-type methylmalonic acidemia combined with homocysteinemia: case report. [PDF]

Front Pediatr
Zhang G, Zhang L, Liu H.
europepmc   +1 more source

Assessment of blood cobalt levels and safety of long-term hydroxocobalamin therapy in patients with cblC defect. [PDF]

Front Nutr
Hao L, Ding Y, Deng Y, Chen T, Zhan X, Xu F, Zhi H, Zhang K, Yang Y, Wang R, Sun Y, Han L.   +11 more
europepmc   +1 more source