Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0000727 (acute abdomen)
 3,084 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The porphyrias are a group of metabolic disorders of heme biosynthesis genetically determined defects. Acute intermittent porphyria is the most common form of porphyria found in the United States. It is caused by a genetic defect in chromosome 11, where one of two genes for porphobilinogen deaminase is defective. Acute intermittent porphyria is characterized by intermittent, acute, occasionally fatal attacks of abdominal, neurologic, psychiatric, and renal symptoms. Attacks are often confused with acute abdomen or bowel obstruction. A variety of drug, hormonal, nutritional, and infectious factors can precipitate clinical symptoms. Managing patients with acute intermittent porphyria involves removing the precipitating factors, increasing carbohydrate intake, controlling pain, and administering medications. A case study is provided.
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PMID:Caring for patients with acute intermittent porphyria. 776 95