alpha-mannosidosis


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alpha-mannosidosis

alpha-mannosidosis

An autosomal recessive lysosomal storage disease (OMIM:248500) caused by a defect in lysosomal alpha mannosidase.
 
Clinical findings
Macrocephaly, thickened calvaria, coarse face, macroglossia, wide-spaced teeth, prognathism, deafness, mental retardation, hepatosplenomegaly.

Molecular pathology
Alpha-mannosidosis is caused by a defect in MAN2B1 on chromosome 19cen-q13.1.
References in periodicals archive ?
Chiesi will leverage its expertise in commercializing innovative pharmaceutical solutions to bring the treatment to all the worldwide patients suffering from alpha-mannosidosis.
Diagnosis of alpha-mannosidosis by measuring alpha-mannosidase in plasma.
Global Markets Direct's, 'Alpha-Mannosidosis - Pipeline Review, H1 2012', provides an overview of the Alpha-Mannosidosis therapeutic pipeline.
A snapshot of the global therapeutic scenario for Alpha-Mannosidosis.
A review of the Alpha-Mannosidosis products under development by companies and universities/research institutes based on information derived from company and industry-specific sources.
Coverage of the Alpha-Mannosidosis pipeline on the basis of route of administration and molecule type.
Identify and understand important and diverse types of therapeutics under development for Alpha-Mannosidosis.
The animals involved in the study are born with a genetic disorder directly analogous to alpha-mannosidosis or AMD, an inherited disease in humans that causes severe mental retardation and skeletal abnormalities.
The ability to monitor the improvement in brain myelination in alpha-mannosidosis using imaging allows the clinician to see improvement in brain pathology without the need for brain biopsy.