Variegate Porphyria

"genetic and biochemical studies in argentinean patients with variegate porphyria.", by Rossetti MV, Granata BX, Giudice J, Parera VE, Batlle A. F2: a) c.471 G> A mutation in the last base of exon 5; b) 4% agarose gel of normal and mutant alleles of the cDNA from the patient showing an extra band of about 530...

Variegate porphyria is a rare genetic metabolic disorder defined by deficient function of the enzyme protoporphyrinogen oxidase. Blistering and frailty of sun-exposed skin are one of the most common skin symptoms. Several PPOX genetics mutations have been recognized in different families with variegate porphyria. The genetic mutation in a family is inherited as an autosomal dominant trait, yet many individuals who acquire a PPOX genetics mutation do not develop any symptoms. It is crucial to note that people who have one type of porphyria do not develop any one of the other types. The symptoms and intensity of variegate porphyria can vary considerably from someone to another. Many individuals with variegate porphyria may not develop any significant symptoms for all or most of their lives. If motor neuropathy breakthroughs, reflexes might be increased at first and decreased or absent. When progesterone levels are highest, women might have attacks during the 2nd half of the menstrual cycle. Persistent skin abnormalities result from photosensitivity, a condition in which the skin is extraordinarily conscious sunlight, creating scorching skin lesions. Blisters are slow-moving to recover and can scar leaving patches of skin that are abnormally dark or light. Skin symptoms might be less common in individuals who stay in nontropical environments. Some individuals with variegate porphyria only develop skin abnormalities, others only develop neurological symptoms and some have both. Individuals with variegate porphyria are at an increased risk for developing a type of liver cancer recognized as hepatocellular carcinoma.

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