The porphyrias is a group of rare, mainly inherited, heterogeneous metabolic disorders caused by abnormal function of the haem biosynthetic pathway enzymes. Diagnosis in symptomatic patients depends on biochemical assessment of haem precursors in different specimen. In most of the Nordic countries, there are expert centres specialized in the diagnosis and treatment of the porphyrias.
Det här är ett utplock av en intressant artikel från KBN – Nr. 2 – vol. 36 – 2024.