Analbuminemia in a neonate

Cormode, Edward J.; Lyster, Donald M.; Israels, Sydney

doi:10.1016/s0022-3476(75)80215-0

Cited by 76 publications

(46 citation statements)

References 13 publications

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“…Existing literature provides little information on the effect of fetal CAA in pregnancy, with reports including SGA, placental edema or infarction, and frequent miscarriage (1,(13)(14)(15)(16). The present case series supports reports of SGA infants.…”

Section: Discussionsupporting

confidence: 74%

Perinatal and childhood morbidity and mortality in congenital analbuminemia

Toye

Lemire

Baerg

2012

Paediatrics and Child Health

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Section: Discussionsupporting

confidence: 74%

Perinatal and childhood morbidity and mortality in congenital analbuminemia

Toye

Lemire

Baerg

2012

Paediatrics and Child Health

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“…In our study, using primers D41 and D42 (17) as allele-specific oligonucleotide probes under stringent hybridization conditions, we examined DNA from human placenta (wild-type), Roma, Daughter of Roma, Codogno (an unrelated Italian analbuminemia), and pAnalb 9.4 (a plasmid containing the splice junction from an analbuminemic American Indian girl) (17 8 (Fig. 2).…”

Section: Resultsmentioning

confidence: 99%

“…A second function is to maintain the oncotic pressure and volume of the blood; hence, albumin or plasma are commonly administered intravenously to treat shock and loss of blood. Analbuminemia (or hypoalbuminemia) is a very rare syndrome in which subjects produce little or no albumin (about 1/100th to 1/1000th normal); yet, they exhibit only moderate edema or other symptoms, apparently because of a compensatory increase in other plasma proteins such as IgG and lipoproteins (2)(3)(4)(5)(6)(7)(8)(9)(10) (Robert Kyle, personal communication). Nor has it been reported in Sweden, where about one million electrophoretic analyses have been made (Carl-Bertil Laurell, personal communication).…”

mentioning

confidence: 99%

A nucleotide insertion and frameshift cause analbuminemia in an Italian family.

Watkins

Madison

Galliano

et al. 1994

Proc. Natl. Acad. Sci. U.S.A.

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In analbuminemia, a very rare inherited syndrome, subjects produce little or no albumin (1/100th to 1/1000th normal), presumably because of a mutation in the albumin gene; yet, they have only moderate edema and few related symptoms owing to a compensatory increase in other plasma proteins. Because of the virtual absence of albumin the defect must be identified at the DNA level. In this study the mutation causing analbuminemia in an Italian family was investigated by analysis of DNA from a mother and her daughter. The mother was homozygous for the trait and had a serum albumin value of <0.01 g/dl (about 1/500th normal); the daughter was heterozygous for the trait and had a nearly normal albumin value. Molecular cloning and sequence analysis of DNA from both mother and daughter showed that the mutation is caused by a nucleotide insertion in exon 8; this produces a frameshift leading to a premature stop, seven codons downstream. The methods of heteroduplex hybridization and single-strand conformation polymorphism were used to compare the DNA of the mother and daughter to the DNA of two unrelated analbuminemic individuals (one Italian and one American). This showed that all three analbuminemic individuals had different mutations; these also differed from the mutation in the only human case previously studied at the DNA level, which was a splicing defect affecting the ligation of the exon 6-exon 7 sequences. Thus, analbuminemia may result from a variety of mutations and is genetically heterogeneous.Serum albumin is the most abundant secreted protein in the body; it comprises about 50%o of the total protein in serum where it has a normal concentration of 3.5-4.5 g/dl (1

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“…Previously we reported that the findings of an increased plasma total cholesterol concentration and a decreased NEFA level in NAR were consistent with those of human analbuminemia [2,3,5,13]. In further studies on plasma lipid concentrations the results were not consistent.…”

Section: Discussionmentioning

confidence: 59%

“…The virtual absence of serum albumin was reported by Bennhold et al, in 1954 [3], and since then 14 additional cases have been reported in human familial analbuminemia [2,5,13]. These patients were reported to be essentially healthy, but they had certain biochemical abnormalities in common : they had low levels of serum albumin and nonesterif ied fatty acid and a high level of total cholesterol.…”

Section: Introductionmentioning

confidence: 89%