PMID: 9443115Jan 27, 1998Paper

A urinary radioisotope-binding assay to diagnose Gräsbeck-Imerslund disease

Journal of Pediatric Gastroenterology and Nutrition
B DuguéJ L Guéant

Abstract

Gräsbeck-Imerslund disease (congenital familial selective vitamin B12-malabsorption with proteinuria, MGA1, MIM No. 261100) is a rare disorder displaying autosomal recessive inheritance. This study was designed to investigate the usefulness of measuring the activity of the urinary receptor for the intrinsic factor-cobalamin complex as a tool to diagnose this disease. The receptor activity was measured by a radioisotope-binding assay, using phenyl-Sepharose gel as the adsorbant solid phase of the receptor. In 10 Finnish patients, urinary receptor activity was on the average 640 times (15-1400 times) lower than that in 13 healthy control subjects: mean values of 0.1 nmol/mol (range, 0.01-0.32 nmol/mol) and 6.4 nmol/mol (range, 3.8-12.4 nmol/mol) creatinine, respectively. The mean value of urinary receptor activity in 11 first-degree, healthy relatives of the patients was 4.6 nmol/mol (range, 1.1-10.4 nmol/mol) creatinine, a difference from levels in control subjects that is not statistically significant. When the first-degree relatives were divided into heterozygotes (parents and siblings heterozygous for the haplotype of genetic markers associated with the disease gene) and wild-type homozygotes (siblings not displaying the dise...Continue Reading

References

Jan 1, 1990·Pediatric Hematology and Oncology·M Ben-AmiA Koren
Nov 30, 1990·Biochimica Et Biophysica Acta·K S RamanujamB Seetharam
Jan 1, 1973·Scandinavian Journal of Haematology·U Furuhjelm, H R Nevanlinna
May 11, 1972·The New England Journal of Medicine·I L MackenzieV I Mathan
Mar 1, 1984·Acta paediatrica Scandinavica·H BrochM Seip
Jul 15, 1960·Acta Medica Scandinavica·R GRASBECKB KUHLBACK
Jul 1, 1963·Acta Haematologica·O IMERSLUND, P BJORNSTAD

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Citations

Jan 1, 2013·Biochimie·Ralph Gräsbeck
May 26, 2006·Orphanet Journal of Rare Diseases·Ralph Gräsbeck
Nov 30, 2000·American Journal of Physiology. Renal Physiology·N BradaD H Alpers
Mar 11, 2003·Human Genetics·Reijo Norio

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