Identification of a novel deletion in the MMAA gene in two Iranian siblings with vitamin B12-responsive methylmalonic acidemia

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• 作者：Fatemeh Keyfi ; Mohammad Reza Abbaszadegan…
• 刊名：Cellular & Molecular Biology Letters
• 出版年：2016
• 出版时间：December 2016
• 年：2016
• 卷：21
• 期：1
• 全文大小：2,596 KB
• 刊物主题：Cell Biology; Biochemistry, general; Biophysics and Biological Physics; Biotechnology; Molecular Medicine;
• 出版者：Springer Vienna
• ISSN：1689-1392
• 卷排序：21

文摘

BackgroundAdenosylcobalamin (vitamin B12) is a coenzyme required for the activity of methylmalonyl-CoA mutase. Defects in this enzyme are a cause of methylmalonic acidemia (MMA). Methylmalonic acidemia, cblA type, is an inborn error of vitamin B12 metabolism that occurs due to mutations in the MMAA gene. MMAA encodes the enzyme which is involved in translocation of cobalamin into the mitochondria.