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The inheritance pattern appears to be autosomal recessive.

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What is the incidence of ALA dehydratase deficiency porphyria?

ALA dehydratase deficiency porphyria is an extremely rare form of porphyria. It is an autosomal recessive disorder with only a few cases reported worldwide. Symptoms can vary widely among affected individuals.


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 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).


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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)


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What does fa ala ala mean?

does wing wing


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Ala Mezher is 181 cm.


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Ala Gertner was born in 1921.


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The cast of Ala suerte ala muerte - 2007 includes: Ana Capri Maris Dimayuga Jacob Tingson