Heart failure in a patient with methylmalonic acidemia

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• 作者：Maryam Razzaghy Azar ; Marjan Shakiba ; Roya I. Tafreshi ; Mohamed S. Rashed
• 关键词：Acid α ; -glucosidase ; GAA ; Glycogen storage disease ; Haplotype analysis ; Lysosomal storage disorder ; Molecular analysis ; Pompe disease
• 刊名：Molecular Genetics and Metabolism
• 出版年：2007
• 期刊代码：175_10967192
• 类别：bio
• 出版时间：September-October 2007
• 卷：92
• 期：1-2
• 页码：188
• 文件大小：85 K

摘要

Glycogen storage disease type II is an autosomal recessive disorder of glycogen metabolism due to deficiency of lysosomal acid α-glucosidase. We present the molecular and enzymatic analyses of 22 Spanish GSD II patients. Molecular analyses revealed nine novel mutations. The most common defects were mutations c.-32-13T>G (25%) and c.1076-1G>C (14%) and we report the first homozygous patient for c.1076-1G>C mutation presenting with an infantile form. Alleles bearing mutation c.-32-13T>G are associated with the same haplotype.