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Acute intermittent porphyria (AIP) is a rare metabolic disorder affecting the production of heme resulting from a deficiency of the enzyme porphobilinogen deaminase. It is the most common of the acute porphyrias .
Porphyria / p ɔːr ˈ f ɪr i ə / is a group of disorders in which substances called porphyrins build up in the body, adversely affecting the skin or nervous system. [1] The types that affect the nervous system are also known as acute porphyria, as symptoms are rapid in onset and short in duration. [1]
Porphyria cutanea tarda is the most common subtype of porphyria. [1] The disease is named because it is a porphyria that often presents with skin manifestations later in life. The disorder results from low levels of the enzyme responsible for the fifth step in heme production. Heme is a vital molecule for all of the body's organs.
Erythropoietic protoporphyria (or commonly called EPP) is a form of porphyria, which varies in severity and can be very painful.It arises from a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the red blood cells (erythrocytes), plasma, skin, and liver. [2]
Skin conditions resulting from errors in metabolism are caused by enzymatic defects that lead to an accumulation or deficiency of various cellular components, including, but not limited to, amino acids, carbohydrates, and lipids. [16] Acute intermittent porphyria; Adrenoleukodystrophy (Schilder's disease) Alkaptonuria
The precise pathophysiologic mechanism of pseudoporphyria is not fully understood. Some drugs, especially non steroidal anti-inflammatory drugs, can trigger pseudoporphyria in the presence of ultraviolet light. The pathophysiology of pseudoporphyria associated with hemodialysis has not been fully explained.