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)

In a family in which the father was the mother's uncle, 3 of the 7 children were affected by a syndrome of malabsorption with various clinical symptoms. Diarrhea appeared in 2 of the children at birth, and in the third child at six months. The diarrhea led to failure-to-thrive, muscular wasting and abdominal swelling. However, the children improved spontaneously over the years. During childhood all 3 had manifest steatorrhea. Serum cholesterol was between 39 and 100 mg/dl, while triglycerides were normal to high. Reevaluation during the past year revealed areflexia, deficiency of vitamins A and E and of apoproteins A and B, and prolonged PT time in 2 of the children. Electron and light microscopy of small intestinal biopsies revealed vacuoles in the enterocytes. Electrophysiological tests revealed major disturbances in sensory conduction and brain-stem function. These cases differ from those described in the literature. Although in hypobetalipoproteinemia, 1 of the parents would be expected to be heterozygous and have low serum levels of APO B, in this family the parents had normal levels. Their children had low levels of serum APO A, while in patients with hypobetalipoproteinemia the levels are normal. There is a report of a case of deficiencies of both apolipoproteins, but the patient was asymptomatic, had chylomicronemia after a prolonged fast, and lower cholesterol levels than our patients. 8 other cases of apolipoprotein deficiency have been reported with biochemical characteristics similar to those of our patients, but with retention of chylomicrons in the small intestine.
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PMID:[Familial hypobetalipoproteinemia with steatorrhea and malabsorption]. 180 Feb 74

We evaluated the total plasma bile acids, total lipids, total cholesterol, total triglicerides, LDL-cholesterol, HDL-cholesterol, phospholipids and lipoproteins (APOA-A and APO-B) in 25 patients with inflammatory bowel disease: 20 with ulcerative colitis (UC) and 5 with Crohn's disease. In comparison to 17 healthy volunteers, the total plasma bile acids were decreased in all patients. The serum level of total cholesterol, LDL-Ch, HDL-ch and APO-A was significantly lower in patients with Crohn's disease and ulcerative colitis (p less than 0.01) than in normal controls; total triglycerides and APO-B were decreased only in the group with Crohn's disease (p less than 0.05). Thus, decreased values of total plasma bile acids malabsorption, and they suggest a more important romalabsortion, and they suggest a more important role of the colon in the preservation of bile acids.
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PMID:[Lipids and total bile acids in the blood of patients with inflammatory bowel diseases]. 221 31

Abetalipoproteinemia (ABL) is a rare recessive genetic disease caused by mutations of the MTTP gene. This disease is characterised by a defect in the lipidation of APO B and the absence of VLDL and chylomicron production. Patients affected by ABL present neurological, hemalogical and gastro-intestinal symptoms due to deficiency in lipophilic vitamins and fat malabsorption. We herein report the case of two cousins, one presenting classical symptoms of abetalipoproteinemia and one presenting a much attenuated phenotype. The proband carried a novel combination of MTTP mutations, the 1867+1G>A and the R540C mutations. This patient never received any vitamin supplements and was relatively free of symptoms despite an undetectable APO B concentration. Her cousin was homozygous for 1867+1G>A MTTP mutation and presented most of the classical symptoms of ABL. In conclusion we report a very unusual kindred where on affected member is strongly symptomatic of ABL whereas the other presents very mostly asymptomatic disease suggesting that ABL can present itself with a very incomplete clinical penetrance.
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PMID:A tale of 2 cousins: An atypical and a typical case of abetalipoproteinemia. 2757 36