Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024523 (malabsorption)
 7,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two sisters developed gastrointestinal malabsorption with pain and unsteady gait due to polyneuropathy at age 15. Both had ophthalmoplegia, neurogenic EMG, and COX-negative muscle fibers. One patient had low muscle complex I-IV activity, multiple mtDNA deletions, and depletion, but no thymidine phosphorylase (TP) or dNT-2 gene mutations. TP activity and brain MRI were normal. The condition resembles mitochondrial neurogastrointestinal encephalomyopathy, except for the absence of leukoencephalopathy, and is likely caused by a nuclear DNA mutation that disrupts intergenomic signaling.
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PMID:Multiple mtDNA deletions with features of MNGIE. 1229 82

The duodenal switch (DS) procedure is a type of restrictive-malabsorptive bariatric surgery that is typically reserved for severe morbidly obese people (body mass index >50 kg/m(2)) with obesity-related comorbidities, when diet, lifestyle changes, and pharmacologic therapy fail to achieve adequate weight loss. Patients who undergo the DS procedure are at risk for malabsorption, malnutrition, and nutrient deficiencies. Copper deficiency is a commonly reported long-term complication of Roux-en-Y gastric bypass (RYGB) surgery. However, data are limited on copper deficiency-associated complications and their treatment in DS patients. This article presents a case of a patient who developed hypocupremia with associated pancytopenia, myeloneuropathy, and leukoencephalopathy following DS and reviews the literature related to the pathophysiology of copper deficiency and copper replacement in bariatric surgery patients. When severe diarrhea was present, intravenous elemental copper 4 mg (as cupric chloride)/d in addition to daily oral copper gluconate was necessary to correct the hypocupremia and improve the hematologic indices and neurologic symptoms of copper deficiency. When diarrhea subsided, oral elemental copper 4 mg (as copper gluconate) 3 times daily maintained normal serum copper concentrations and avoided the relapse of severe neurologic dysfunction. Regular monitoring of serum copper and ceruloplasmin concentrations is recommended following DS surgery to detect any copper deficiency before irreversible neurologic damage occurs. Long-term copper supplementation is likely necessary to maintain normal copper status in DS patients.
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PMID:Neurologic dysfunction and pancytopenia secondary to acquired copper deficiency following duodenal switch: case report and review of the literature. 2194 41