Analbuminaemia

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or (esp. Brit.) analbuminaemia

an autosomal recessive condition in which plasma albumin is missing, or present in very small amounts, and accompanied by compensatory increases in other plasma protein fractions and frequently hypercholesterolemia. It is associated with several splice junction or nonsense mutations in the gene for albumin at 4q11 — q13.

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Analbuminaemia or analbuminemia is a genetically inherited metabolic defect characterised by an impaired synthesis of serum albumin.[1] Despite the fact that albumin is the most common serum protein, analbuminaemia is a benign condition.

References

  1. ^ Watkins S, Madison J, Galliano M, Minchiotti L, Putnam FW (1994). "Analbuminemia: three cases resulting from different point mutations in the albumin gene". Proc. Natl. Acad. Sci. U.S.A. 91 (20): 9417–21. doi:10.1073/pnas.91.20.9417. PMC 44823. PMID 7937781. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=44823. 

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