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PCT may be acquired, typically as a result of disease (especially hepatitis C), drug or alcohol use, or exposure to certain poisons. May also be inherited as an autosomal dominant disorder, remains latent in most.
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∙ 13y ago
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What is acute intermittent porphyria also called?
Swedish porphyria, pyrroloporphyria, and intermittent acute porphyria.
Is pyroluria connected to porphyria?
Yes, in acute intermittent porphyria, both pyrroles and porphyrins are excreted in the urine to an excessive degree.
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.
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.
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 a non-acute porphyria?
Non-acute porphyrias present as chronic diseases.
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 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 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.
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 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).
