Infantile Form Sialuria

《英文msh詞典》Infantile Form Sialuria
[入口詞] Infantile Form Sialuria
[主題詞] Sialic Acid Storage Disease
[中文釋義] 嬰兒型唾液酸尿癥
[英文釋義] Autosomal recessive neurodegenerative disorders caused by lysosomal membrane transport defects that result in accumulation of free sialic acid (N-ACETYLNEURAMINIC ACID) within the lysosomes. The two main clinical phenotypes,which are allelic variants of the SLC17A5 gene,are ISSD,a severe infantile form,or Salla disease,a slowly progressive adult form,named for the geographic area in Finland where the kindred first studied resided.