Hereditary porphyrias are a group of eight metabolic disorders of the haem biosynthesis
pathway that are characterised by acute neurovisceral symptoms, skin lesions, or both …

The acute porphyrias, 4 inherited disorders of heme biosynthesis, cause life-threatening
attacks of neurovisceral symptoms that mimic many other acute medical and psychiatric …

Most iron in mammalian systems is routed to mitochondria to serve as a substrate for
ferrochelatase. Ferrochelatase inserts iron into protoporphyrin IX to form heme which is …

Acute porphyrias are rare inherited disorders due to deficiencies of haem synthesis
enzymes. To date, all UK cases have been one of the three autosomal dominant forms …

Porphyria diseases are a group of metabolic disorders caused by abnormal functioning of
heme biosynthesis enzymes and characterized by excessive accumulation and excretion of …

Heme is an integral part of proteins involved in multiple electron transport chains for energy
recovery found in almost all forms of life. Moreover, heme is a cofactor of enzymes including …

The acute hepatic porphyrias are a group of four inherited disorders, each resulting from a
deficiency in the activity of a specific enzyme in the heme biosynthetic pathway. These …

Recent advances in the molecular understanding of the porphyrias now offer specific
diagnosis and precise definition of the types of genetic mutations involved in the disease …

The inborn errors of heme biosynthesis, the Porphyrias, include eight major disorders
resulting from loss-of-function (LOF) or gain-of-function (GOF) mutations in eight of the nine …

Public attention has been drawn to the acute porphyrias in the past few years by speculation
that they affected the character of George III and the creative genius of Vincent van Gogh …