Mannosidosis,alpha B,Lysosomal

《英文msh詞典》Mannosidosis,alpha B,Lysosomal
[同義詞] Mannosidosis,alpha B,Lysosomal
[主題詞] alpha-Mannosidosis
[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.