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Related Experiment Videos

[Mannosidosis type II].

C Tranchant1, J Reis, J L Dietemann

  • 1Service de Neurologie II, Clinique Neurologique, Hôpital Civil, Strasbourg.

Revue Neurologique
|January 1, 1991
PubMed
Summary
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Mannosidosis is a rare genetic disorder affecting siblings. Enzyme assays for D-mannosidase are crucial for diagnosing this condition and identifying carriers.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Mannosidosis is a lysosomal storage disorder.
  • It is characterized by the accumulation of mannose-rich oligosaccharides.
  • Genetic defects in alpha-mannosidase lead to this condition.

Observation:

  • A family with four affected siblings presented with psychomotor retardation, macrocephaly, facial dysmorphism, and complications like kyphosis and recurrent pulmonary infections.
  • Oligosaccharide chromatography revealed a characteristic mannosidosis profile.
  • Severely reduced D-mannosidase activity was observed in affected siblings' leucocytes and fibroblasts.

Findings:

  • Affected individuals exhibited significantly low D-mannosidase enzyme activity.
  • Carrier parents, though asymptomatic, showed reduced D-mannosidase activity in their cells.

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  • This highlights the enzyme deficiency as a key diagnostic marker.

    • Implications:

    • Early diagnosis of mannosidosis is possible through D-mannosidase enzyme assays.
    • Carrier screening can be performed using leucocyte and fibroblast assays.
    • Understanding the biochemical profile aids in managing this rare genetic disorder.