title: Alpha-mannosidosis - a review of genetic, clinical findings and options of treatment.
abstract: Alpha-mannosidosis (OMIM 248500) is a rare, autosomal recessive, multisystemic, progressive lysosomal storage disorder caused by a deficiency of alpha-mannosidase. It has been described in humans, cattle, domestic cats, mice and guinea pigs. In humans, alpha-mannosidosis results in progressive facial- and skeletal abnormalities, motor impairment, hearing impairment, intellectual disability, recurrent infections and immune deficiency. This review provides detailed information regarding the variability of manifestations and a description of current treatment and treatment under investigation for alpha-mannosidosis. The pathology, genetics and clinical pictures, including impairments in the activity of daily living are discussed.
authors.forename: Line
authors.initials: L
authors.lastname: Borgwardt
authors.forename: Allan Meldgaard
authors.initials: AM
authors.lastname: Lund
authors.forename: Christine I
authors.initials: CI
authors.lastname: Dali
mesh_terms: D056947:Enzyme Replacement Therapy; D034381:Hearing Loss / Q000175:diagnosis / Q000235:genetics; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D008363:alpha-Mannosidosis / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy*