Specialty Care portfolio
Within the Specialty Care portfolio, we provide products for the treatment of genetic and metabolic diseases as well as a number of specialist indications.
Tyrosinaemia type 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 menas that if tyrosinaemia isn't treated, it may cause liver and kidney damag, neurological issues, and shorter life expectancy. 1,2
HT-1, is thought to affect one person in every 100,00 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 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
Alkaptonuria, also known as AKU or Black Bone Disease, is an extremely rare genetic condition, which can casue significant damage to the bones, cartilage and tissues of those affected. AKU normally only affects one in every 250,000 people.
Familial Chyomicronemia Syndrome (FCS) is a very rare disease that leads to extremely high triglyceride levels (10 to 100 times higher than normal) and pathological accumilation of chylomicrons (the transport molecules of triglycerides) in the blood. This causes, among other things, gastroenterological complaints up to severe pancreatitis.
References
1. GentzJ, Jagenburg R, Zetterstrom R. Tyrosinemia: An inborn error of tyrosine metabolism with cirrhosis of the liver and multiple renal tubular defects (de Toni-Debre-Fanconi syndrome). J Pediat,1965;66(4):670-696
2. 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
3. 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
4. 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)