Studies of Patients with Familial Vitamin B&lt;sub&gt;12 &lt;/sub&gt; Malabsorption

Bjørnstad, Per G.; Imerslund, Olga

doi:10.1159/000208144

Cited by 10 publications

(1 citation statement)

References 2 publications

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“…Gräsbeck demonstrated the defect to be selective cobalamin malabsorption, ruling out all known causes of vitamin B 12 malabsorption, including what is today known as transcobalamin deficiency (2). The identity of the conditions described did not become apparent until Imerslund and Bjørnstad in 1963 also demonstrated selective cobalamin malabsorption in their patients (16). Gräsbeck‐Imerslund syndrome is a recessively inherited disorder (by 1997, approximately 250 cases had been reported in the literature) (6,17‐19), whose gene locus has been assigned to chromosome 10 by linkage studies in Finnish and Norwegian families (6).…”

Section: Discussionmentioning

confidence: 99%

A Urinary Radioisotope‐Binding Assay to Diagnose Gräsbeck‐Imerslund Disease

Dugué,

Aminoff,

Aimone‐Gastin

et al. 1998

J. pediatr. gastroenterol. nutr.

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Background:Gräsbeck‐Imerslund disease (congenital familial selective vitamin B 12‐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.Methods:The receptor activity was measured by a radioisotope‐binding assay, using phenyl‐Sepharose gel as the adsorbant solid phase of the receptor.Results: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 disease haplotype), no difference was seen.Conclusion:Determination of receptor activity in the urine is a highly accurate method for diagnosis of Gräsbeck‐Imerslund disease at an early stage, but it does not detect carriers of the disorder.

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Section: Discussionmentioning

confidence: 99%

A Urinary Radioisotope‐Binding Assay to Diagnose Gräsbeck‐Imerslund Disease

Dugué,

Aminoff,

Aimone‐Gastin

et al. 1998

J. pediatr. gastroenterol. nutr.

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Selective Malabsorption of Vitamin B12

1963

JAMA

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A dose response curve was constructed and showed that potassium excretion decreased as the dose of triamterene rose. Triamterene promotes natruresis in patients with edema resistant to other forms of therapy. The duration of the natruretic and diuretic actions is 16 hours with maxi¬ mum excretion occurring within 12 hours. The optimal natruretic dose of triamterene is 100 mg.An average of 23 blood pressure determinations per indi¬ vidual over a span of 4 to 5 years was recorded for 100 persons ranging in age from 61 to 99 years. Over this pe¬

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Hereditary Disorders of Intestinal Transport

Milne¹

1974

Intestinal Absorption

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Studies of Patients with Familial Vitamin B<sub>12 </sub> Malabsorption

Cited by 10 publications

References 2 publications

A Urinary Radioisotope‐Binding Assay to Diagnose Gräsbeck‐Imerslund Disease

A Urinary Radioisotope‐Binding Assay to Diagnose Gräsbeck‐Imerslund Disease

Selective Malabsorption of Vitamin B12

Hereditary Disorders of Intestinal Transport

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