analbuminemia


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  • noun

Words related to analbuminemia

an abnormally low level of albumin in the blood serum

References in periodicals archive ?
We describe a novel splicing mutation that is the cause of analbuminemia in a 1-year-old female infant, the 1st child of apparently nonconsanguineous parents, born and living in Bartin (Turkey).
These results showed that the mutation we report, for which we suggest the name Bartin, affects pre-mRNA maturation by inactivating the 5' splice site sequence at the 11th exon-intron boundary of the albumin gene, and is a previously unreported mutation causing analbuminemia.
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).
In previously reported cases of analbuminemia attributable to aberrant splicing, the consequences of the defect at the mRNA level were not evaluated (13,14).
In summary, we report the first case of congenital analbuminemia attributable to compound heterozygosity for 2 new mutations in the HSA gene.
Further studies on plasma proteins, lipids, and dye- and drug-binding in a child with analbuminemia.
The existence of analbuminemia is suspected when persistent unexplained hypoproteinemia is observed, and the diagnosis is confirmed by the absence of an albumin band in the serum protein electrophoresis pattern (3).
In a continuation of our study of this disorder, we report here the molecular defect that is the cause of congenital analbuminemia in four, apparently unrelated, individuals.
All four presented with low circulating albumin, but the values were >1 g/L, which is conventionally accepted as indicative of analbuminemia.
in conditions ranging from severe NTI to analbuminemia (7, 58)].
Dye-binding albumin methods have falsely indicated the presence of albumin in analbuminemia in a rat model (17) and in a case report (18); however, few analytical details were reported.
Serum protein electrophoresis performed at 10 weeks (patient DN) and 12 weeks (patient KB) revealed an absence of an albumin band (0-3 g/L), and the diagnosis of congenital analbuminemia was considered.
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.