0
What else can I help you with?
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 is the incidence of non-acute congenital erythropoietic porphyria?
It is a rare disease, estimated to affect fewer than one in one million people.
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 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.
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 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).
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.
