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Symptoms occur only during attacks. Major symptoms include neurological problems and sensitivity to light. Skin exposed to sunlight is susceptible to burning, blistering, and scarring.
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∙ 13y ago
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What is variegate porphyria also called?
Also known as porphyria variegata, protocoproporphyria, South African genetic porphyria, and Royal malady (supposedly King George III of England and Mary, Queen of Scots, suffered from VP).
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).
What is the symptomology of hepatoerythopoietic porphyria?
Symptoms resemble those of congenital erythropoietic porphyria. Red urine, teeth and bones; enlarged spleen; hair growth; recurrent blistering/skin infections can cause facial features and fingers to be lost.
What is porphyria?
Porphyria is a metabolic disorder and is genetic. It is one of the acute porphyrias and cutaneous porphyria are also found within this condition. The gene mutation R59W carried within my family; the common defect responsible for Variegate Porphyria in South Africa, results in a faulty enzyme (protoporphyrinogen oxidase PPOX) that cannot handle the normal metabolism of porphyrins, which results in overproduction in the blood and urine.
What is the symptomology of ALA dehydratase porphyria?
Prominent symptoms are vomiting, pain in the abdomen, arms, and legs, and neuropathy (could cause breathing impairment or weakness or paralysis of the arms and legs).
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)
What is the symptomology of porphyria cutanea tarda?
Blistering on the hands, face, and arms following minor injuries or exposure to sunlight. Lightening or darkening of the skin with increased hair growth or loss of hair. Liver function is mildly abnormal.
How tu use variegate in a sentence?
To variegate is to change the way something looks. An example sentence would be: She had to variegate her garden.
What is the symptomology of acute intermittent porphyria?
Usually do not occur unless triggered by a substance. Attacks feature abdominal pain, nausea, vomiting, constipation, muscle weakness/pain, deep red urine, hallucinations, seizures, mood changes.
What is the symptomology of congenital erythropoietic porphyria?
Reddish urine, maybe enlarged spleen, skin light sensitivity, hair grows, blistering and skin infections (may lose facial features and fingers), red staining of teeth and bones.
What is acute intermittent porphyria also called?
Swedish porphyria, pyrroloporphyria, and intermittent acute porphyria.
Is porphyria dominant or recessive?
both depending on the type of porphyria
