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)

A previously undescribed fatal multisystem syndrome involving the eyes, ears, lungs, intestines, and kidneys occurred in sibs. They both presented during early childhood with cataracts, otitis media, intestinal malabsorption, chronic respiratory infection, and failure to thrive. Later, they developed recurrent pneumonia (one was shown to have immotile bronchial cilia) and progressive azotemia leading to end-stage renal disease (ESRD) by late childhood. Both died of overwhelming infection (sepsis, meningitis). An autosomal recessive mode of inheritance is proposed since the normal parents were distant cousins, and 4 other sibs were normal.
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PMID:New syndrome involving the visual, auditory, respiratory, gastrointestinal, and renal systems. 144 88

In a controlled trial conducted to assess the biologic value of High Nitrogen Vivonex, we compared this "elemental" diet with predigested protein--Product MJ7041--and with solid food during eight-day balance periods. Each formula was evaluated in three patients with malabsorption and one without it, by measuring apparent absorption of nitrogen and energy, nitrogen balance, and blood and urinary urea nitrogen. Overall energy and nitrogen absorption in the patients with malabsorption was better with either special diet than with solid food; net intestinal uptake of Vivonex tended to be higher but not consistently so in al patients. However, nitrogen balance differed consistently during the three diets; with solid food and MJ7041, retention of absorbed nitrogen was respectively, nine and 16 times greater than with Vivonex. Moreover, institution of each Vivonex period led to a prompt increase in urea nitrogen--a trend quickly reversed by the alternative diets. Although the mechanism for the impairment of nitrogen use caused by High Nitrogen Vivonex is unknown, its low biologic value and tendency to cause azotemia should be kept in mind.
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PMID:Increased ureagenesis and impaired nitrogen use during infusion of a synthetic amino acid formula: a controlled trial. 680 16