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 siblings of Turkish-Assyrian extraction, whose parents were first cousins, had poor appetite, slow weight gain and retarded psychomotor development. When given milk the galactose concentration in blood increased. An oral galactose load showed a markedly reduced capacity to metabolize galactose. Fanconi syndrome was present as in classical galactosemia. A galactose-free diet reduced the aminoaciduria but did not normalize the renal tubular function nor the children's general condition. Galactokinase and galactose-1-phosphate uridyltransferase activities in red blood cells were normal. The physical appearance of the children (sparse subcutaneous fat, thin extremities and distended abdomen) and the results of vitamin A and xylose absorption tests, were in accordance with a malabsorption condition. Glucose, however, seemed to be absorbed normally from the gut. There was no evidence of primary liver disease. Since the condition did not normalize with a galactose-free diet, an enzyme defect of galactose metabolism is unlikely. Instead, a more general transport defect with autosomal recessive inheritance is proposed.
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PMID:Familial Fanconi syndrome with malabsorption and galactose intolerance, normal kinase and transferase activity. A report on two siblings. 627 35

A pair of monozygotic twin girls with coeliac disease is reported. The diagnosis was made on clinical and biochemical evidence of malabsorption, characteristic histological findings, and clinical, biochemical, and histological response to gluten elimination. Monozygosity was established on finding a single placenta at birth, exact similarity of physical appearance, similar blood group, and histocompatibility antigens, and negative reaction in mixed lymphocyte culture. This is one of six well documented cases of coeliac disease in monozygotic twins and may throw light on the importance of genetic and environmental factors in the causation and expression of the disease.
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PMID:Coeliac disease in monozygotic twin girls. Synchronous presentation. 654 Jul 34