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Günther disease is a congenital form of erythropoietic porphyria. The word porphyria originated from the Greek word porphura. The word porphyria originated from the Greek word porphura. Porphura actually means "purple pigment", which, in suggestion, the color that the body fluid changes when a person has Gunther's disease. [ 3 ]
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 ]
X-linked dominant erythropoietic protoporphyria is a relatively mild version of porphyria with the predominant symptom being extreme photosensitivity causing severe itching and burning sensation of the skin due to the buildup of protoporphyrin IX. One possible treatment was discovered when treating an individual with supplemental iron for a ...
A common condition seen in animals is congenital porphyria due to the accumulation of Uroporphyrin, which is deposited in the teeth and bones, giving them a pink discolouration, or excreted through the urine, exhibiting a pinkish fluorescence under ultraviolet light.
In older English sources such as the King James Version of the Bible, cattle refers to livestock, as opposed to deer which refers to wildlife. Wild cattle may refer to feral cattle or to undomesticated species of the genus Bos. When used without a qualifier, the modern meaning of cattle is usually restricted to domesticated bovines. [15]
Variegate porphyria is inherited in an autosomal dominant pattern, which means the defective gene is located on an autosome, and inheriting one copy of the defective gene from an affected parent is sufficient to cause the disorder. More severe cases result from inheriting two copies of the defective gene.
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.
Uroporphyrinogen III synthase (EC 4.2.1.75) is an enzyme involved in the metabolism of the cyclic tetrapyrrole compound porphyrin.It is involved in the conversion of hydroxymethyl bilane into uroporphyrinogen III.