AKUT INTERMITTANT PORFIRI PDF

Acute intermittent porphyria AIP is a rare autosomal dominant metabolic disorder affecting the production of heme resulting from a deficiency of the porphobilinogen deaminase. It is the most common of the acute porphyrias. The clinical presentation of AIP is highly variable and non-specific. The patients are typically asymptomatic, with most gene carriers having no family history because the condition had remained latent for several generations. AIP is one of the four porphyrias that presents as an acute attack. Patients usually experience symptoms in attacks that last from several hours to a few days.

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The Biological Basis of Schizophrenia pp Cite as. I want to consider schizophrenia as an inborn error of metabolism by comparing it with a disease in which the inborn error is already known. The disease chosen as a model for comparison is acute intermittent porphyria. The clinical material which has formed the basis for the comparison consists of two pedigrees, one of which has suffered from schizophrenia and the other from acute intermittent porphyria.

Both families were from isolated geographical areas in Sweden, and both pedigrees have been traced back more than ten generations to the early 17 th century. Unable to display preview. Download preview PDF. Skip to main content. This service is more advanced with JavaScript available. Advertisement Hide. Clinical and biochemical manifestations of acute intermittent porphyria: A working model for schizophrenia as an inborn error of metabolism. Authors Authors and affiliations L. This process is experimental and the keywords may be updated as the learning algorithm improves.

This is a preview of subscription content, log in to check access. Ask, A-L. Platelet monoamine oxidase in a pedigree with schizophrenia: an interlaboratory comparison. In press Google Scholar. A genetical and neuropsychiatric investigation of a North Swedish population. Acta Genet. Schizophrenia in a North Swedish population — Formgren, B. Garrod, A.

Inborn Errors of Metabolism. London: Henry Frowda Google Scholar. Macalpine, I. McKusick, V. The growth and development of human genetics as a clinical discipline. Strauss, J. Choosing an approach for diagnosing schizophrenia.

Psychiatry , 34 , CrossRef Google Scholar. Wagemaker, J. The use of hemodialysis in chronic schizophrenia. Psychiatry , , 6 Google Scholar.

Wetterberg, L. A neuropsychiatric and genetical investigation of acute intermittent porphyria. Report on an international survey of safe and unsafe drugs in acute intermittent porphyria. Doss and P. Nawrocki, eds. Pharmacological and biochemical properties of kryptopyrrole and its oxidation products possibly related to acute intermittent porphyria. Wetterberg There are no affiliations available. Personalised recommendations. Cite chapter How to cite?

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Pathogenesis and treatment of acute intermittent porphyria.

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Akut intermittent porfyri (AIP)

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