Genetic condition awaiting consideration - Alpha mannosidosis
Alpha mannosidosis is an autosomal recessive condition caused by a change in a gene called MAN2B1 on Chromosome 19. A change in the gene prevents the creation of an important enzyme which gives rise to the disorder. The same gene causes all forms of the disorder.
Parents of an affected child will both be healthy carries, but have a 25% chance of having an affected child in each pregnancy they have.
Alpha mannosidosis can affect people in a variety of ways and level of severity ranging from very serious to very mild forms. There are three types of alpha mannosidosis and the type relates to the severity. Some affected children will die in infancy. The range of problems associated with this condition includes the following:
- Typical facial appearance
- Developmental delay (mild to severe)
- Hearing loss
- Impaired language
- Recurrent infections
- Bone disease which can lead to wheelchair use
- Psychiatric symptoms
This condition is progressive, and gradually worsens with age. Many of those affected will be dependant on carers for their health and social needs.
Have your say on conditions awaiting consideration
If you have any feedback on the genetic conditions awaiting consideration by the HFEA, send us an email and we will discuss your comments at the next Licence Committee.
Email: pgd@hfea.gov.uk
Page last updated: 19 August 2010
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