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Most people who inherit the gene for acute porphyria never actually develop symptoms. However, some people will have nausea, muscle fatigue, and purple urine.
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What is acute intermittent porphyria also called?
Swedish porphyria, pyrroloporphyria, and intermittent acute porphyria.
What is the general presentation of acute porphyrias?
All of the hepatic porphyrias--except porphyria cutanea tarda--follow a pattern of acute attacks separated by periods during which no symptoms are present.
What is a non-acute porphyria?
Non-acute porphyrias present as chronic diseases.
What are the 4 different steps at which heme biosynthesis defects occur with acute porphyrias?
ALA dehydratase deficiency porphyria (step 2); acute intermittent porphyria (step 3); hereditary coproporphyria (step 6); variegate porphyria (step 7).
Is pyroluria connected to porphyria?
Yes, in acute intermittent porphyria, both pyrroles and porphyrins are excreted in the urine to an excessive degree.
Describe non-acute congenital erythropoietic porphyria?
CEP is inherited in an autosomal recessive manner. Onset of dramatic symptoms usually occurs in infancy, but may hold off until adulthood.
What is the incidence of acute intermittent porphyria?
Approximately five to 10 per 100,000 people in the United States carry a gene for AIP, but only 10% of these people ever develop symptoms of the disease.
Is there anyone that had porphyria?
First of all you must have a family history with porphyria; secondly the type of porphyria in your family must be definitely established as well as the mutation in your family. The porphyrias are a group of diseases (disorders) caused by the over-production of porphyrins, as a result of an inherited metabolic defect. In most cases the defect is genetic, except with one form porphyria cutanea tarda, that is however usually not genetic, but is acquired as a result of certain forms of liver dysfunction.A patient with porphyria have two major symptoms;the acute attack ( severe abdominal pain, nausea, vomiting, constipation, and pain in the back and limbs);and photosensitivity (due to sun-exposed areas, a skin disease develops with blisters and sores, particularly on the face and backs of the hands, forming scars, and healing takes longer than normal.Testing is very problematic and depends on the nature of your symptoms that you experience as well as in what country you live.It must be tested at a PORPHYRIA LABORATORY who are able to perform the complete range of tests necessary as incomplete results may be misleading in giving false-negative results. You have to submit a urine sample and a blood sample at a reputable porphyria laboratory for the following tests;Urine ALA and PBG measurement (this helps to exclude acute intermittent porphyria, and variegate porphyria in the acute attack).Urine porphyrin screening, followed by chromatographic quantitation if positive, to estimate the activity of acute intermittent porphyria and variegate porphyria, and to confirm porphyria cutanea tarda.Plasma fluorescence scan (this helps to exclude several porphyrias, including variegate porphyria and porphyria cutanea tarda).Erythrocyte fluorescence (this helps to exclude erythropoietic protoporphyria and congenital erythropoietic porphyria).DNA testing for the R59W mutation. (this is VP - Variegate Porphyria - South African mutation)If your results are negative, then your symptoms are not due to porphyria, and it is therefore highly unlikely that you in fact have porphyria. Your doctor must in any event help you to find another cause for your symptoms. (Source: Porphyria UCT SA)
Does porphyria do anything else besides the known symptoms?
im not sure
What are the 4 different steps at which heme biosynthesis defects occur with non-acute porphyrias?
Congenital erythropoietic porphyria (step 4); porphyria cutanea tarda (step 5); hepatoerythopoietic porphyria (step 5); erythropoietic protoporphyria (step 8).
How do you describe non-acute hepatoerythopoietic porphyria?
Hepatoerythopoietic porphyria (HEP) affects heme biosynthesis in both the liver and the bone marrow and appears due to inheriting an autosomal recessive gene.
Symptoms of death with acute leukemia?
symptoms you will have before death with acute leukemia
