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What is acute intermittent porphyria also called?
Swedish porphyria, pyrroloporphyria, and intermittent acute porphyria.
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).
Which substances can trigger an attack of acute intermittent porphyria?
Hormones (oral contraceptives, menstruation, pregnancy), drugs and dietary factors.
What has the author Lennart Wetterbert written?
Lennart Wetterbert has written: 'A neuropsychiatric and genetical investigation of acute intermittent porphyria' -- subject(s): Heredity of disease, Mental illness, Prophyria
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.
What is a non-acute porphyria?
Non-acute porphyrias present as chronic diseases.
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 symptoms are associated with acute porphyria?
Most people who inherit the gene for acute porphyria never actually develop symptoms. However, some people will have nausea, muscle fatigue, and purple 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 pyroluria connected to porphyria?
While both pyroluria and porphyria involve abnormalities in the heme biosynthesis pathway, they are separate conditions with distinct characteristics. Pyroluria is associated with elevated levels of pyrroles in the urine and is thought to involve zinc and vitamin B6 deficiencies, while porphyria involves defects in enzymes that lead to the accumulation of porphyrins. The two conditions are not directly connected, but both can impact heme production and may have overlapping symptoms.
What is porphobilinogen?
Porphobilinogen is an intermediate molecule in the biosynthesis of heme, a component of hemoglobin and other proteins. It is produced in the body through a series of enzymatic reactions in the heme biosynthesis pathway. Elevated levels of porphobilinogen can be found in certain conditions like acute intermittent porphyria.
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.
