analbuminemia


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analbuminemia

[¦an‚al‚byü·mə¦nēm·ē·ə]
(medicine)
A disorder transmitted as an autosomal recessive, characterized by drastic reduction or absence of serum albumin.
References in periodicals archive ?
In humans only 2 DNA mutations affecting splicing have been reported to cause analbuminemia, but the consequence of the mutations on the mRNA could not be evaluated (8, 9).
Two of the 10 different mutations reported to cause analbuminemia in humans, the Fondi allele (13378 A[right arrow]G) (11) and the Bartin mutation (13381 T[right arrow]C), lie in close proximity within the exon 11-intron 11 junction.
Novel nonsense mutation causes analbuminemia in a Moroccan family.
Further studies on plasma proteins, lipids, and dye- and drug-binding in a child with analbuminemia.
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.
She presented with generalized edema at the age of 17, and analbuminemia was diagnosed on the basis of the electrophoretic pattern of serum proteins in which albumin represented only 5.
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.
The diagnosis of analbuminemia could not be confirmed by serum protein electrophoresis because her serum contained albumin derived from intravenous infusions.
Although non-zero results were obtained with both agarose gel (patient DN) and cellulose acetate (patient KB) electrophoresis, other analbuminemia studies have occasionally reported albumin concentrations of 0 g/L with electrophoresis.
1 shows that most variation in the apparent albumin concentration in analbuminemia reports is accounted for by the albumin methodology (one-way ANOVA, P <0.
The risk of reporting inaccurate albumin results is present not only in analbuminemia but also in hypoalbuminemic states such as nephrotic syndrome and burn injuries, using these methods (8, 9).