Specialty care

Within specialty care, we provide therapies for rare genetic and metabolic diseases as well as a number of specialist indications.

An example of a genetic metabolic disease is hereditary tyrosinaemia type 1 (HT-1).

HT-1 is a condition where the body is unable to break down tyrosine, one of protein's essential building blocks. When the body cannot break down tyrosine, high levels build up in the blood and form a toxic substance known as succinylacetone. This means that if tyrosinaemia isn't treated, it may cause liver and kidney damage, neurological issues, and shorter life expectancy.

The most severe form of tyrosinaemia, HT-1 is thought to affect one person in every 100,000 to 120,000 worldwide. Affecting males and females equally, it must be inherited from both parents.

Twenty years ago, before a pharmacological treatment was developed, the life expectancy for children born with HT-1 was often only a few years. Today, with early detection and diagnosis, a protein-restricted diet and treatment, people with HT-1 are reaching adulthood and starting their own families.