Alpha-mannosidosis - a review of genetic, clinical findings and options of treatment

Pediatr Endocrinol Rev. 2014 Sep;12 Suppl 1:185-91.


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.

Publication types

  • Review

MeSH terms

  • Enzyme Replacement Therapy
  • Hearing Loss / diagnosis
  • Hearing Loss / genetics
  • Hematopoietic Stem Cell Transplantation
  • Humans
  • alpha-Mannosidosis / diagnosis*
  • alpha-Mannosidosis / genetics*
  • alpha-Mannosidosis / therapy*