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How do you describe ALA dehydratase deficiency porphyria?
The inheritance pattern appears to be autosomal recessive.
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 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 the symptomology of variegate porphyria?
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.
What are the actions of serine dehydratase?
The serine dehydratase is an enzyme; enzymes act as catalysts in biochemical reactions. Role of serine dehydratase: - transformation of serine in pyruvate - transformation of threonine in propionyl CoA
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.
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
When was Porphyria's Lover created?
Porphyria's Lover was created in 1836.
