Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0042963 (vomiting)
 31,883 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Gastrointestinal symptoms are often an early and prominent manifestation of Fabry disease, an X-linked inborn error of metabolism caused by the deficient activity of the lysosomal enzyme, alpha-galactosidase A. This enzyme deficiency results in the progressive accumulation of globotriaosylceramide and other glycosphingolipids in tissue lysosomes throughout the body. In classically affected patients, glycosphingolipid accumulation in the vascular endothelium eventually culminates in life-threatening renal, cardiac, and cerebrovascular disease. In addition, over 50% of patients experience post-prandial abdominal pain and diarrhea that interferes with the ability to work and quality of life. Here, we describe four males aged 17-40 years with classic Fabry disease and severe gastrointestinal symptoms who participated in clinical trials of enzyme replacement therapy with agalsidase beta (Fabrazyme, 1 mg/kg every 2 weeks). Before therapy, the three adult patients experienced post-prandial abdominal pain, bloating, and severe diarrhea with 7-10 bowel movements per day every day and the 17-year-old had weekly episodes of diarrhea with six bowel movements per day. Other symptoms included vomiting, food intolerance, and poor weight gain. All patients took medications for these symptoms (diphenoxylate-atropine [Lomotil], ranitidine hydrochloride [Zantac], or sulfasalazine). After 6-7 months of agalsidase beta therapy, all patients reported "no or only occasional" abdominal pain or diarrhea, had discontinued their gastrointestinal medications, and had gained 3-8 kg. These marked improvements in gastrointestinal symptoms have persisted for over 3 years of treatment. In such patients, enzyme replacement at 1 mg/kg effects an early and significant clinical improvement in the gastrointestinal manifestations of Fabry disease.
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PMID:Gastrointestinal manifestations of Fabry disease: clinical response to enzyme replacement therapy. 1593 45

Fabry disease is a rare X-linked recessive lysosomal storage disorder caused by deficiency of lysosomal enzyme alpha-galactosidase, which leads to accumulation of globotriasylceramides (GL-3) in visceral tissues and vascular endothelium, causing multi-organ failure. We presenta case of Fabry disease in a 17-year-old patient with mainly gastrointestinal manifestations, diagnosed 10 years after the manifestation of first symptoms. Significant and progressive weight loss with abdominal pain and vomiting, leading to cachexia, were observed in early childhood. The patient was investigated for non-inflammatory bowel diseases, Raynaud syndrome, polimyositis, mitochondrial cytopathies, intestinal lypodystrophies and others. The symptoms of intenstinal pseudo-obstruction syndrome were observed and surgical treatment was instituted because of necrosis of the colon. There was progressive cachexia and parenteral nutrition had to be instituted. Finally, plasma alpha-galactosidase was measured, and its deficit confirmed Fabry disease. In conclusion gastrointestinal symptoms in the course of Fabry disease can obscure other characteristic symptoms, may be prodromal and leading. Heart and renal failure may not occur in children. Unexplained abdominal pain and malnutrition may be gastrointestinal manifestations of metabolic disorders.
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PMID:[Diagnostic problems in a 17-year-old patient with gastrointestinal manifestations of Fabry disease]. 2178 14

Diabetes mellitus is a systemic disease which affects patients of various age. Hyperglycemia induces damage of vascular endothelium, development of chronic inflammation, organic and functional lesions in several systems and organs. The principal gastroenterological complaints linked to the manifestation of the disease include abdominal pain, diarrhea, nausea, flatulence, and vomiting. However, complications in the alimentary system may manifest exclusively by difficulties in reaching normoglycemia and numerous persistent episodes of hypoglycemia. The most frequent complication of diabetes mellitus affecting the alimentary tract involves gastroparesis and disturbances in pancreatic function. Diabetes may also aggravate other coexisting diseases, such as gastroesophageal reflux or periodontitis. Subject-based references accentuate also a significantly more frequent manifestation together with diabetes of other autoimmune diseases, such as celiac disease or autoimmune gastritis. Also, a hepatic microangiopathy and increased incidence of certain tumors, linked to the manifestation of insulin resistance, may be regarded to represent complications of long-term diabetes. Rapid diagnosis and adequate treatment may significantly improve a patient's quality of life and influence the prolonged control of glycemia. Nevertheless, this requires a rigorous analysis of the signs and clinical condition of a patient as well as individualization of recommendations and therapy.
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PMID:Gastrointestinal complications in patients with diabetes mellitus. 2953 48