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Galactosialidosis is a lysosomal storage disease. This condition is rare and most cases have been in the juvenile/adult group of patients. An infantile form has been described. ==Molecular biology== It is associated with cathepsin A. This disease is due to mutations in the CTSA gene which encodes the protective protein/cathepsin A (PPCA).〔Caciotti A, Catarzi S, Tonin R, Lugli L, Perez CR, Michelakakis H, Mavridou I, Donati MA, Guerrini R, D Azzo A, Morrone A (2013) Galactosialidosis: review and analysis of CTSA gene mutations. Orphanet J Rare Dis 8(1):114 〕 This in turn leads to a secondary deficiency of beta-galactosidase (GLB1) and neuraminidase 1 (NEU1). There are three distinct CTSA isoforms. 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「galactosialidosis」の詳細全文を読む スポンサード リンク
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