Novel nonsense mutation causes analbuminemia in a Moroccan family.
Splicing mutation in human hereditary analbuminemia. Proc Natl Acad Sci U S A 1988;85:2125-9.
A novel splicing mutation causes an undescribed type of analbuminemia. Biochim Biophys Acta 2002; 1586:43-9.
Analbuminemia: three cases resulting from different point mutations in the albumin gene, Proc Natl Acad Sci U S A 1994;91:9417-21.
Splicing mutation in human hereditary analbuminemia Proc Natl Acad Sci U S A 1988;85:2125-9.
Treatment of severe hypercholesterolemia with atorvastatin in congenital analbuminemia. Am J Med 2004;117:803-4.
The diagnosis of congenital analbuminemia was considered in spite of the misleading false results of conventional albumin methods; this diagnosis was supported when immunoassay indicated that serum albumin was <0.01 g/L (3).
The diagnosis of analbuminemia could not be confirmed by serum protein electrophoresis because her serum contained albumin derived from intravenous infusions.
A diagnosis of congenital analbuminemia was established by elimination of other causes of hypoalbuminemia.
In summary, some conventional BCG methods are prone to overestimations of albumin that may delay diagnosis of congenital analbuminemia. When dynamic ranges of BCG methods are assigned using saline-diluted serum (with a constant albumin:globulin ratio), there is no assurance that very low concentrations or the absence of albumin can be detected when the albumin:globulin ratio is abnormally low.
Analbuminemia: report of a case and review of the literature.
Bennhold's analbuminemia. a follow-up study of the first two cases (1953-1992).