Svensk definition
En medfödd metabol rubbning. Så gott som alla patienter har psykomotorisk funtionsnedsättning, förgrovning av ansikte och en viss grad av dysostosis multiplex.. Troligtvist en autosomal recessiv sjukdom.
alpha-Mannosidosis
Alfamannosidos
Engelsk definition
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.
Svenska synonymer
Inga svenska synonymer finns.
Engelska synonymer
alpha Mannosidosis — alpha-Mannosidoses — Alpha-Mannosidase B Deficiency — alpha-Mannosidase Deficiency — Deficiencies, alpha-Mannosidase — Deficiency, alpha-Mannosidase — alpha Mannosidase Deficiency — alpha-Mannosidase Deficiencies — Lysosomal Alpha B Mannosidosis — Lysosomal alpha-D-Mannosidase Deficiency — Deficiencies, Lysosomal alpha-D-Mannosidase — Deficiency, Lysosomal alpha-D-Mannosidase — Lysosomal alpha D Mannosidase Deficiency — Lysosomal alpha-D-Mannosidase Deficiencies — alpha-D-Mannosidase Deficiencies, Lysosomal — alpha-D-Mannosidase Deficiency, Lysosomal — Mannosidosis, alpha B Lysosomal — Mannosidosis, alpha B, Lysosomal — Alpha-D-Mannosidosis — alpha Mannosidase B Deficiency — Alpha-Mannosidosis, Type I