alpha-Mannosidosis |
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| alpha-Mannosidase Deficiency; Deficiencies, alpha-Mannosidase; Deficiency, alpha-Mannosidase; alpha Mannosidase Deficiency; alpha Mannosidosis; alpha-Mannosidase Deficiencies; alpha-Mannosidoses | |
| 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. | |