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)

Bile acids represent the principal excretion pathway of cholesterol. Their synthesis involves hydroxylations of the sterol nucleus and shortening of the lateral chain transforming an highly insoluble and immiscible molecule in an hydrophilic and detergent one. Congenital defect of one of the enzymes of bile acid synthesis (26-alpha-hydroxylase) constitutes the etiology of cerebrotendinous xanthomatosis, associating degenerative disease of the central nervous system, cutaneous xanthomas and cataract; the degenerative process may be stopped by a substitutive therapy with chenodeoxycholic acid. In another syndrome characterised by a lack of peroxisomes (Zellweger disease and associated syndromes), some bile acid metabolites accumulate due to the enzymatic block. Some cases of malabsorption due to a congenital defect of bile sterol synthesis are reported; such a case was jointly investigated in Brussels and Groningen.
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PMID:[Congenital deficiencies in bile acid synthesis: from diagnosis to treatment]. 850 58

Abetalipoproteinemia (ABL) and familial hypobetalipoproteinemia (FHBL) are genetic diseases characterized by low density lipoprotein deficiency. ABL presents early in life with the gastroenterological manifestations of fat malabsorption, steatorrhea, and failure to thrive, and later in life, with progressive ophthalmopathy and neuropathy as a result of deficiency of the fat-soluble vitamins A and E. Heterozygous FHBL subjects are usually asymptomatic, but may develop fatty liver disease. In homozygous (compound heterozygous) FHBL, the clinical and biochemical features are indistinguishable from those of ABL and treatment recommendations are the same: dietary fat restriction to prevent steatorrhea, and long-term high-dose vitamin E and A supplementation to prevent or at least slow the progression of neuromuscular and retinal degenerative disease. Despite their low plasma vitamin E levels, individuals with heterozygous FHBL do not require vitamin E supplementation. There are conflicting reports on whether increased oxidative stress is seen in ABL; these differences may relate to the small size of patient groups as well as differences in patient age and dose of vitamin E supplementation, or the contribution from dietary sources of vitamin E. High density lipoproteins in ABL appear to be severely oxidized yet able to inhibit platelet aggregation by binding to scavenger receptor B1. We review the role of vitamin E and oxidative stress in ABL and FHBL.
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PMID:Vitamin E and oxidative stress in abetalipoproteinemia and familial hypobetalipoproteinemia. 2608 16