Article ID Journal Published Year Pages File Type
8695983 Repertorio de Medicina y Cirugía 2017 5 Pages PDF
Abstract
Porphyrias are a group of eight low prevalence disorders of heme metabolism, each characterized by a defect in an enzyme required for the synthesis of heme. Acute intermittent porphyria, affecting 1.5 per 100.000 people per year manifesting with abdominal pain, tachycardia, paresthesia, constipation and vomiting, is one type of porphyria. Porphyric neuropathy is fundamentally motor, symmetrical and often has a proximal predilection. A case is presented in a female patient in whom acute intermittent porphyria was documented. Her symptoms included peripheral neuropathy, abdominal pain and elevation of transaminases. Her symptoms resolved after receiving treatment.
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