Lysomale Speichererkankung

The Koala

Alpha-Mannosidosis

Alpha-mannosidosis, a glycoproteinosis, is due to a genetic defect of the lysosomal enzyme alpha-mannosidose that is responsible for the hydrolysis of glycoprotein carbohydrate moieties. The decreased activity of this enzyme leads to accumulation of oligosaccharides in several cells and organs. Alpha-mannosidosi is a slowly progressive disorder that shows a broad phenotypic variability. Clinical features include hearing impairment, skeletal abnormalities, impairment of of mental function, sometimes periods of psychosis. In addition, muscular weakness and ataxia are observed. In the first decade of life recurrent infections occur due to an immune defect.

Alpha-Mannosidosis | SphinCS - Clinical Science for LSD

Etiology: Deficiency of alpha-mannosidase
Gene: MAN2B1 Gene
Mode of inheritance: Autosomal recessive
Phenotypes:

  • Infantile Form
  • Milder Form 

Leading symptoms:

Infantile form
(Age of onset: infancy)

  • Severe CNS manifestations
  • Severe immune deficiency
  • Hepatosplenomegy

Mildere form
(Age of onset: childhood, adolescence)

  • Faciale dysmorphia
  • Dysostosis multiplex
  • Hearing impairment
  • Immune deficiency
  • Psychomotor development delay
  • Cognitive impairment
  • Ataxia
  • Psychatric symptoms
  • Hepatosplenomegaly

Diagnostics:

  • Measurement of the activity of alpha-mannosidase in serum
  • Molecular genetic analysis of MAN2B1-Gene

Therapy:
Velmanase alfa (Lamzede®)

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