Porphyria Association Inc. Australia

 

What is porphyria? There are eight different types of Porphyria that are all caused by a build up of porphyrins in the cells of the body. Porphyrins are substances that are required for the production of red blood cells. People who have porphyria can experience a wide range of symptoms depending on the type of porphyria they have. Some types of porphyria impact the nervous system whilst other types impact the skin. Nervous system symptoms (such as intense pain, confusion and limb weakness) are characteristic of the acute porphyrias. The acute porphryias are sub-categorised as; Acute Intermittent Porphyria (AIP) Hereditary Coproporphyria (HCP) Variegate Porphyria (VP) ALA-dehydratase Deficiency Porphyria (ALAD) Symptoms of the skin (such as pain and blistering upon exposure to sunlight) arise in the cutaneous porphyrias. The cutaneous porphryias are sub-categorised as; Porphyria Cutanea Tarda (PCT) Erythropoietic Protoporphyria (EPP) Congenital Erythropoietic Porphyria (CEP) X-Linked Protoporphyria (XLP) Each of the different porphyrias is caused by a disruption to one step in the pathway that produces heme. Heme is a critical chemical in red blood cells as it helps transport oxygen around the body.

 

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