Genetic condition awaiting consideration - Mucopolysaccharidosis type I (MPS I)
Mucopolysaccharidosis type I (MPS I) was once divided into three separate syndromes: Hurler; Hurler-Scheie, and Scheie syndromes. This classification was due to slightly different symptoms, but the cause is one or more mutations in the gene which makes an enzyme called alpha-L-iduronidase (IDUA).
Current definitions refer to severe and attenuated MPS I.
Children with MPS I often have no signs or symptoms of the condition at birth, but in severe cases they begin to show signs and symptoms within the first year of life, while those with the attenuated form have milder features that develop later in childhood. Both forms can affect many different organs and tissues.
Children with severe MPS I experience a decline in intellectual function and a more rapid disease progression. Developmental delay is usually present by age 1 and severely affected children eventually lose basic functional skills, usually having a shortened lifespan, sometimes living only into late childhood.
Individuals with attenuated MPS I typically live into adulthood and may or may not have a shortened lifespan. Some will have learning disabilities, while others have no intellectual impairments.
Heart disease and airway obstruction are major causes of death in people with both types of MPS I.
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 your feedback to: pgd@hfea.gov.uk
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Page last updated: 18 June 2013