alpha-Mannosidosis

《英文msh詞典》alpha-Mannosidosis
[主題詞] alpha-Mannosidosis
[同義詞] Mannosidosis,alpha B,Lysosomal
[入口詞] alpha-Mannosidase Deficiency
[入口詞] Deficiencies,alpha-Mannosidase
[入口詞] Deficiency,alpha-Mannosidase
[入口詞] alpha Mannosidase Deficiency
[入口詞] alpha Mannosidosis
[入口詞] alpha-Mannosidase Deficiencies
[入口詞] alpha-Mannosidoses
[英文釋義] An inborn error of metabolism marked by a defect in the lysosomal isoform of ALPHA-MANNOSIDASE activity that results in lysosomal accumulation of mannose-rich intermediate metabolites. Virtually all patients have psychomotor retardation,facial coarsening,and some degree of dysostosis multiplex. It is thought to be an autosomal recessive disorder.