The Boao Winhealth Rare Diseases Medical Center introduces Orfadin, bringing hope for patients with Alkaptonuria (AKU) in China.

The Boao Winhealth Rare Diseases Medical Center has introduced another rare disease medicine, Orfadin, bringing hope for patients with Alkaptonuria (AKU) in China to improve their quality of life, local media outlets reported on Sept 13.

AKU is an inherited disease that causes urine to turn black when exposed to air and is related to the phenylalanine and tyrosine metabolism disorder. Alkapton, an acid formed as an intermediate product of the metabolism of tyrosine and phenylalanine, will develop in the patients' urine and will also gather in their soft tissues, skin, heart and joints, causing poisonous damage to organs such as bones, livers and kidneys. 

The incidence rate of AKU around the world is around one to one million and there are a few case reports in China.

Orfadin is developed by Swedish Orphan Biovitrum AB, an international biopharmaceutical company dedicated to providing treatments for rare diseases.

The medicine was approved by the European Medicines Agency in October 2020 for the treatment of AKU in adults.