Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036474 (scurvy)
 685 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), a visceral myopathy causing intestinal obstruction in the newborn, is a generally fatal condition, with death being secondary either to sepsis or to malnutrition if long-term intravenous feeding is not provided. A patient with MMIHS is described who has been raised by total parenteral nutrition (TPN) for seven years since her birth. Severe hepatic dysfunction was encountered in early infancy, which gradually cleared after the initiation of milk feeding by mouth, although the milk could not be absorbed because of the high-output jejunostomy. The patient also experienced a bone disease similar to scurvy but caused by copper deficiency at the age of 9 months. The central venous catheter now in situ is the 25th one for the patient. When these catheters were evaluated, the Broviac proved more efficacious than the traditional Silastic for use in long-term TPN. The patient does not yet have normal bowel function and still requires TPN.
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PMID:Successful nutrition management of megacystis-microcolon-intestinal hypoperistalsis syndrome--a case report. 252 Mar 38