Acute Intermittent Porphyria: A Diagnostic Challenge for Endocrinologist
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Acute Intermittent Porphyria: A Diagnostic Challenge
Acute intermittent porphyria is a metabolic disorder rarely seen in prepubertal children. A delay in diagnosis of acute intermittent porphyria is common because of variable and nonspecific symptoms. We report an 8-year-old boy with right hemimegalencephaly and intractable seizures, who presented with dark-colored urine, hypertension, increasing lethargy, fluctuating seizures, and poor oral inta...
متن کاملAcute intermittent porphyria with seizure and paralysis in the puerperium.
Porphyrias are a group of metabolic disorders, usually genetic in origin, secondary to deficiencies of various enzymes involved in the heme biosynthetic pathways. They are usually classified into hepatic and erythropoietic types based on the major sites of the porphyrin production. It is more clinically useful, however, to classify this disorder into acute and nonacute types based on the clinic...
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To investigate the previously postulated association of systemic lupus erythematosus (SLE) and porphyria 38 patients with various types of porphyria were investigated for clinical and laboratory evidence of a connective tissue disease. Antinuclear antibodies (ANAs) were found in 8/15 (53%) patients with acute intermittent porphyria. These patients were more likely to have had a recent acute att...
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A method has been devised for the meaable of dete#{233}tingpatients with the latent surement of uroporphyrinogen I syndisease who have normal urinary #{244}thetase ih red cells. By using trichloroacetic aminolevulinic acid and porphobilinogen acid as a pfoteln frecipitant, heme is reexcretion. It also appears to distinguish moved from the final solution, allowing other typos of porphyria from a...
متن کاملA family with acute intermittent porphyria.
Porphyrias are inherited defects in heme metabolism that result in excessive secretion of porphyrins and porphyrin precursors. Porphyrias can be classified into acute, (neuropsychiatric), cutaneous and mixed forms. There are seven main types of porphyrias; acute intermittent porphyria and plumboporphyria are predominantly neuropsychiatric; congenital erythropoietic porphyria, porphyria cutanea ...
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