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Porphyria
- Porphyria is a group of disorders caused by abnormalities in the chemical steps that lead to heme production. Heme is a vital molecule for all of the body's organs, ...
- ... ALAD gene can cause a rare form of porphyria called ALAD deficiency porphyria. Most of these mutations change single protein building ... and other signs and symptoms of ALAD deficiency porphyria. More About This Health Condition A common variation ( ...
- ... have been found to cause a form of porphyria known as congenital erythropoietic porphyria. Most of these mutations change single protein building ... one-third of all cases of congenital erythropoietic porphyria, replaces the amino acid cysteine with the amino ...
- ... been identified in people with a form of porphyria known as acute intermittent porphyria. Some of these mutations change single protein building ... and other symptoms in people with acute intermittent porphyria. More About This Health Condition HEM3_HUMAN Hydroxymethylbilane ...
- ... UROD gene is responsible for two forms of porphyria, porphyria cutanea tarda and hepatoerythropoietic porphyria. Porphyria cutanea tarda is the most common type ...
- ... been identified in people with a form of porphyria called variegate porphyria. A particular PPOX gene mutation is found in ... also contribute to the characteristic features of variegate porphyria. More About This Health Condition PPO PPOX_HUMAN ...
- ... increase the risk of developing a condition called porphyria. Porphyria is a group of disorders caused by abnormalities ... in people with the most common form of porphyria, known as porphyria cutanea tarda, than in unaffected ...
- ... been identified in individuals with a form of porphyria called erythropoietic protoporphyria. A mutation in one copy ... enough to cause the signs and symptoms of porphyria; people with this disorder must also inherit a ...
- ... the CPOX gene have been found to cause porphyria. Mutations in this gene can cause two types of porphyria: hereditary coproporphyria and a variant known as harderoporphyria. ...
- ... disorders such as beta thalassemia or congenital erythropoietic porphyria. Beta thalassemia is a condition that reduces the ... cells and tissues throughout the body. Congenital erythropoietic porphyria is another disorder that impairs hemoglobin production. People ...
