What is Gunther disease?
Congenital erythropoietic porphyria (CEP or Gunther disease) is an extremely rare subtype of the non-acute group, estimating a prevalence of <0.9 in 1 000 000 [1, 2]. All organs are vulnerable to the porphyrin accumulation effects, but the most affected ones are the skin, hematopoietic system, teeth, bones and sclera.
How many people have congenital erythropoietic porphyria?
CEP is a very rare genetic disorder that affects males and females in equal numbers. Over 200 cases have been reported worldwide.
What causes congenital porphyria?
Erythropoietic porphyria is caused by autosomal recessive inheritance of genes that encode abnormal uroporphyrinogen III synthase (UROS) enzyme protein. The resultant deficient activity of this enzyme leads to hemolytic anemia, cutaneous photosensitivity, and their complications.
What causes erythropoietic Protoporphyria?
Erythropoietic protoporphyria (EPP) is a rare inherited metabolic disorder caused by a deficiency of the enzyme ferrochelatase (FECH), which results from changes (mutations) in the FECH gene.
What is hereditary Coproporphyria?
Hereditary coproporphyria (HCP) is a rare metabolic disorder characterized by deficiency of the enzyme coproporphyrinogen oxidase. This enzyme deficiency results in the accumulation of porphyrin precursors in the body. This enzyme deficiency is caused by a mutation in the CPOX gene.
Is there a cure for erythropoietic Protoporphyria?
What is the treatment for erythropoietic protoporphyria? There is no cure for EPP. Lifelong photosensitivity is the main problem. Once the pain has started, pain relief can be difficult to achieve.
How rare is congenital erythropoietic porphyria?
CEP is a very rare genetic disorder that affects males and females in equal numbers. Over 200 cases have been reported worldwide. This disease is extremely rare and is autosomal recessive. Various mutations in the gene for this enzyme have been identified in different families.
Is porphyria a blood disease?
Porphyrias are a group of rare inherited blood disorders. People with these disorders have problems making a substance called heme in their bodies. Heme is made of body chemicals called porphyrin, which are bound to iron. Heme is a component of hemoglobin, a protein in red blood cells that carries oxygen.
Is there a cure for erythropoietic protoporphyria?
Is porphyria fatal?
Acute porphyrias can be life-threatening if an attack isn’t promptly treated. During an attack, you may experience dehydration, breathing problems, seizures and high blood pressure. Episodes often require hospitalization for treatment.