Mmachc disease
Web1 okt. 2024 · Combined methylmalonic aciduria with homocystinuria (cblC type) is a rare disease caused by mutations in the MMACHC gene.MMACHC encodes an enzyme … Web其中，MMACHC基因位于1p34.1，含5个外显子，编码282个氨基酸，已知突变超过70种，中国人最常见突变为c.G609A:p.W203X和c.658_660delAAG，p.K220del。 表2 钴胺素代 …
Mmachc disease
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WebPatients with MMACHC gene alterations may also develop some of the following symptoms and phenotypes: Commonly - More than 50% cases Lethargy Anorexia Not very … Web15 jul. 2010 · In this study, 79 unrelated patients were studied by mutation analysis. Sequencing analysis identified MMACHC mutations in 98.1% (155 of 158) of all disease …
Web2 jul. 2024 · Clinical and biochemical data. The clinical and metabolic findings of the epi-cblC patients are shown in Additional file 1: Tables S2 and S3.All patients had methylmalonic … Web2. Fenton WA, Gravel RA, Rosenblatt DS: Disorders of propionate and methylmalonate metabolism. In: Valle D, Antonarakis S, Ballabio A, Beaudet A, Mitchell GA, eds. The …
WebNM_015506.2(MMACHC):c.271dupA AND Disorders of Intracellular Cobalamin Metabolism Clinical significance: Pathogenic (Last evaluated: Oct 26, 2024) Review status: WebDescription Methylmalonic acidemia with homocystinuria is a disorder in which the body is unable to correctly process certain protein building blocks ( amino acids ), fat building …
The C-terminal region of the product of the MMACHC gene is similar to TonB, a bacterial protein involved in energy transduction for cobalamin uptake. The MMACHC gene product catalyzes the decyanation of cyanocobalamin as well as the dealkylation of alkylcobalamins including methylcobalamin … Meer weergeven Methylmalonic aciduria and homocystinuria type C protein (MMACHC) is a protein that in humans is encoded by the MMACHC gene. Meer weergeven Mutations are associated with methylmalonic acidemia. Meer weergeven • GeneReviews/NCBI/NIH/UW entry on Disorders of Intracellular Cobalamin Metabolism Meer weergeven • Froese DS, Zhang J, Healy S, Gravel RA (2009). "Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with … Meer weergeven
Web12 jul. 2024 · Methylmalonic acidemia (MMA) is a rare autosomal recessive metabolic disease caused by methylmalonyl-CoA mutase or cobalamin (cbl, also known as vitamin B12) deficiency. In China, cbl C deficiency is the most common type of combined MMA and homocysteinemia, which is caused by congenital defects in cbl metabolism ( 1, 2 ). second hard drive macbookWeb11 okt. 2024 · Lerner-Ellis JP, Anastasio N, Liu J, et al. Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations. Hum Mutat 2009; … punker thorWeb7 jan. 2024 · fatigue and chronic tiredness. shortness of breath. pale skin. easy bruising. dizziness. weakness. loss of stamina. People with slightly or recently low MCHC levels may not notice any symptoms at all. punk fall fashionWeb7 jul. 2016 · CblC defects are caused by mutations in the MMACHC gene (ID: 25974; MIM# 609831), located in the 1p34.1 locus. 6 Three common mutations have been identified: c.271dupA, c.394C > T, and c.331C > T. 6–8 The c.271dupA and c.331C > T mutations have been associated with EO disease, and c.394C > T primarily with LO disease. … punk fashion furWebMMACHC (cblC, DKFZP564I122) protein expression summary. Cobalamin (vitamin B12) cytosolic chaperone that catalyzes the reductive decyanation of cyanocob(III)alamin … punk faux leather jacketWebAn important gene associated with Disorders of Intracellular Cobalamin Metabolism is MMACHC (Metabolism Of Cobalamin Associated C), and among its related … second hard drive macbook proWeb3 aug. 2024 · Eye diseases are common in patients with the MMACHC gene c.271dupA homozygous mutation and are characterized by early maculopathy. However, in this … punk fashion shop online