Congenital Analbuminemia attributable to Compound Heterozygosity for Novel Mutations in the Albumin Gene

Campagna, F.; Fioretti, Francesca; Burattin, Marco; Romeo, Stefano; Sentinelli, Federica; Bifolco, Maura; Sirinian, Maria Isabella; Ben, Maria Del; Angelico, Francesco; Arca, Marcello

doi:10.1373/clinchem.2005.048561

Cited by 24 publications

(29 citation statements)

References 16 publications

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“…The first genetic defect in an analbuminemic patient was characterized by Ruffner, Dugaiczyk, and Boman [12] before the introduction of these techniques. A recently reported novel mutation, which escaped the SSCP analysis, has been characterized by direct sequencing of the 14 PCR-amplified exons [13]. The present paper describes a case of analbuminemia for which no causative mutation has been detected, despite direct nucleotide sequencing of both DNA strands of all 14 exons and proximate introns as well as HA and SSCP analysis of the PCR-amplified exons and flanking regions.…”

Section: Discussionmentioning

confidence: 92%

Albumin locust valley: A new case of analbuminemia

Peters

Holowachuk

McIncrow

et al. 2006

Clinical Biochemistry

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Section: Discussionmentioning

confidence: 92%

Albumin locust valley: A new case of analbuminemia

Peters

Holowachuk

McIncrow

et al. 2006

Clinical Biochemistry

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“…But, fatty acid binding site of DBP can only accommodate a polar and Zwitterionic carboxy head group (Woodward K reagent). Analbuminemia is a rare hereditary disease in which the afflicted individuals have very low or negligible amount of circulating serum ALB [37][38][39]. We surmised that since both ALB and DBP bind fatty acids with high affinity, DBP may replace ALB in carrying fatty acids, particularly saturated and mono-unsaturated fatty acids in the cases of low or negligible amount of circulating ALB.…”

Section: Resultsmentioning

confidence: 99%

Fatty acid-binding site environments of serum vitamin D-binding protein and albumin are different

Swamy

Ray

2008

Bioorganic Chemistry

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Vitamin D-binding protein (DBP) and albumin (ALB) are abundant serum proteins and both possess high-affinity binding for saturated and unsaturated fatty acids. However, certain differences exist. We surmised that in cases where serum albumin level is low, DBP presumably can act as a transporter of fatty acids. To explore this possibility we synthesized several alkylating derivatives of 14 Cpalmitic acid to probe the fatty acid binding pockets of DBP and ALB. We observed that N-ethyl-5-phenylisooxazolium-3′-sulfonate-ester (WRK ester) of 14 C-palmitic acid specifically labeled DBP; but p-nitrophenyl-and N-hydroxysuccinimidyl-esters failed to do so. However, p-nitrophenyl ester of 14 C-palmitic acid specifically labeled bovine ALB, indicating that the micro-environment of the fatty acid-binding domains of DBP and ALB may be different; and DBP may not replace ALB as a transporter of fatty acids. KeywordsFatty acid-binding by vitamin D binding protein (DBP) and albumin (ALB); serum transport of fatty acids; affinity labeling analogs of palmitic acid; affinity labeling of fatty acid binding sites of DBP and ALB

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Section: Answersmentioning

confidence: 99%

“…It is caused by a variety of mutations that result in impaired albumin synthesis (1)(2)(3)(4). Homozygous subjects demonstrate analbuminemia, whereas heterozygotes have intermediate concentrations of serum albumin (2,3 ). Although albumin may be undetectable by electrophoresis, it can still be measured (typically 0.3 to 1.8 g/dL) using dye-binding albumin methods (5 Obesity, defined as a body mass index equal to or Ͼ30, is increasing at an alarming rate.…”

Section: Answersmentioning

confidence: 99%

What's Missing?

Meng

2016

Clinical Chemistry

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A 2-year-old boy with edema and fatigue was admitted for further investigation. The boy had no other notable signs or symptoms. Laboratory investigation showed serum total protein 5.4 g/dL and albumin 1.2 g/dL, with serum calcium 7.2 mg/dL (reference interval 8.8 -10.8 mg/dL), magnesium 1.6 mg/dL, and phosphorus 3.3 mg/dL. Serum protein electrophoresis is shown in Fig. 1. Albumin was 0.1 g/dL, and albumin-to-globulin ratio was 0.05 measured by protein electrophoresis. QUESTIONS 1. What is missing from the serum protein electrophoresis? 2. What conditions are associated with this pattern? 3. How do homozygotes and heterozygotes with this condition differ?The answers are on the next page.

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Congenital Analbuminemia attributable to Compound Heterozygosity for Novel Mutations in the Albumin Gene

Cited by 24 publications

References 16 publications

Albumin locust valley: A new case of analbuminemia

Albumin locust valley: A new case of analbuminemia

Fatty acid-binding site environments of serum vitamin D-binding protein and albumin are different

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