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  • autosomal
  • Beta-mannosidosis is inherited in an autosomal recessive manner. (wikipedia.org)
  • The cytogenetic location of the gene is 4q24, furthermore the condition is inherited in an autosomal recessive manner The pathophysiology of this condition, is better comprehended, if one first looks at the normal function of beta-mannosidase such as its function of breaking down disaccharides[medical citation needed] Beta-mannosidase function is consistent with: A diagnosis of beta-mannosidosis is suspected based on the persons clinical presentation. (wikipedia.org)
  • Individuals
  • Low levels or inactivity of the alpha-mannosidase enzyme leads to the abnormal accumulation these compounds in the cells of affected individuals with unwanted consequences. (healthmedicinet.com)
  • mannose
  • In particular, alpha-mannosidase helps break down oligosaccharides containing a sugar molecule called mannose. (centogene.com)
  • glycoproteins
  • A defective alpha-mannosidase enzyme, which normally helps to break down complex sugars derived from glycoproteins in the lysosome, causes sugar build up and impairs cell function. (wikipedia.org)