Within the Specialty Care portfolio, we provide products for the treatment of 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 toxic substances such as succinylacetone. This means that if HT-1 isn't treated, it may cause liver and kidney damage, neurological issues, and shorter life expectancy.1,2
HT-1, is thought to affect one person in every 100,000 worldwide and is the most severe disease associated to the tyrosine catabolism pathway.3 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.2 Today, with early detection and diagnosis, a protein-restricted diet and treatment, people with HT-1 are reaching adulthood and starting their own families.4
- Gentz J, Jagenburg R, Zetterström R. Tyrosinemia: An inborn error of tyrosine metabolism with cirrhosis of the liver and multiple renal tubular defects (de Toni-Debré-Fanconi syndrome). J Pediat,1965;66(4):670-696
- van Spronsen FJ, Thomasse Y, Smit GP et al. Hereditary tyrosinemia type I: a new clinical classification with difference in prognosis on dietary treatment. Hepatology. 1994;20(5):1187-1191
- Morrow G., Tanguay R.M. Biochemical and Clinical Aspects of Hereditary Tyrosinemia Type 1. In: Tanguay R. (eds) Hereditary Tyrosinemia. Advances in Experimental Medicine and Biology, vol 959. Springer, Cham. 2017
- Chinsky JM, Singh R, Ficicioglu C, et al. Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations. Genet Med. 2017;19(12)