scholarly journals Methylmalonic Acidemia and Megaloblastic Anemia due to Congenital Intrinsic Factor Deficiency

2017 ◽  
Vol 5 (2) ◽  
Author(s):  
Robles J ◽  
Sanchez-Valle A
Keyword(s):  
Megaloblastic Anemia ◽  
Intrinsic Factor ◽  
Methylmalonic Acidemia ◽  
Factor Deficiency ◽  
Intrinsic Factor Deficiency

scholarly journals Hereditary Intrinsic Factor Deficiency in Chaldeans

2012 ◽  
pp. 13-18 ◽  
Author(s):  
Amy C. Sturm ◽  
Elizabeth C. Baack ◽  
Michael B. Armstrong ◽  
Deborah Schiff ◽  
Ayesha Zia ◽  
...  
Keyword(s):  
Intrinsic Factor ◽  
Factor Deficiency ◽  
Intrinsic Factor Deficiency

scholarly journals Vitamin B12 Malabsorption Due to Intrinsic Factor Deficiency in Indian Subjects

Blood ◽  
1972 ◽  
Vol 40 (5) ◽  
pp. 747-753 ◽  
Author(s):  
H. G. Desai ◽  
F. P. Antia
Keyword(s):  
Vitamin B12 ◽  
Pernicious Anemia ◽  
Indian Population ◽  
Intrinsic Factor ◽  
Subacute Combined Degeneration ◽  
Factor Deficiency ◽  
Vitamin B12 Absorption ◽  
Intrinsic Factor Deficiency ◽  
Intrinsic Factor Antibody ◽  
Vitamin B12 Malabsorption

Abstract Sixteen patients (from Bombay) with severe vitamin B12 malabsorption due to intrinsic factor deficiency, presenting as subacute combined degeneration of the cord (7), tropical sprue (3), anemia (2), thyrotoxicosis (2), diabetes mellitus (1), and pain in the abdomen (1), are reported. The difficulties of establishing a definite diagnosis of pernicious anemia in Indian population are described. The lower incidence of circulating intrinsic factor antibody (IFA) in Indian patients with histamine-fast achlorhydria and poor vitamin B12 absorption is emphasized. The necessity of separating atrophic gastritis, with severely impaired vitamm B12 absorption, from pernicious anemia on the basis of absence or presence of IFA in serum and/or gastric juice cannot be overemphasized.

scholarly journals A genetic polymorphism in the coding region of the gastric intrinsic factor gene (GIF) is associated with congenital intrinsic factor deficiency

2003 ◽  
Vol 23 (1) ◽  
pp. 85-91 ◽  
Author(s):  
Marilyn M. Gordon ◽  
Nancy Brada ◽  
Angel Remacha ◽  
Isabel Badell ◽  
Elisabeth del Río ◽  
...  
Keyword(s):  
Genetic Polymorphism ◽  
Intrinsic Factor ◽  
Coding Region ◽  
Factor Gene ◽  
Factor Deficiency ◽  
Intrinsic Factor Deficiency

Gastric intrinsic factor deficiency with combined GIF heterozygous mutations and FUT2 secretor variant

Biochimie ◽  
2013 ◽  
Vol 95 (5) ◽  
pp. 995-1001 ◽  
Author(s):  
Celine Chery ◽  
Alain Hehn ◽  
Nadir Mrabet ◽  
Abderrahim Oussalah ◽  
Elise Jeannesson ◽  
...  
Keyword(s):  
Intrinsic Factor ◽  
Factor Deficiency ◽  
Intrinsic Factor Deficiency

Identification of a 4-base deletion in the gene in inherited intrinsic factor deficiency

Blood ◽  
2004 ◽  
Vol 103 (4) ◽  
pp. 1515-1517 ◽  
Author(s):  
Fawwaz Yassin ◽  
Sheldon P. Rothenberg ◽  
Sreedhar Rao ◽  
Marilyn M. Gordon ◽  
David H. Alpers ◽  
...  
Keyword(s):  
Intrinsic Factor ◽  
Nucleotide Sequence Analysis ◽  
Coding Region ◽  
Chain Reaction ◽  
Exon 2 ◽  
Factor Deficiency ◽  
Schilling Test ◽  
Intrinsic Factor Deficiency ◽  
Polymerase Chain ◽  
A Site

Abstract A 4-base deletion has been identified in the coding region of the gene for gastric intrinsic factor (IF) in an 11-year-old girl with severe anemia and cobalamin (Cbl) deficiency. The bone marrow showed frank megaloblastic morphology, and the Schilling test indicated a failure to absorb Cbl that was corrected by coadministration of IF. Pentagastrin administration induced acid secretion, but the gastric juice lacked IF as determined by CbI binding, by fractionation of protein-bound CbI, and by immunoprecipitation with anti-IF antiserum. Individual exons were amplified by the polymerase chain reaction by using primers to the flanking intronic regions, and the nucleotide sequence analysis identified a 4-base deletion (c183_186delGAAT) spanning positions 104 to 107 in exon 2, resulting in premature termination of translation. This mutation also eliminates a site for Bst XI endonuclease and introduces a site for BsaBI for identifying this deletion in hereditary IF deficiency.

72. LACK OF ENTEROCHROMAFFIN CELLS IN THE STOMACH OF A CASE WITH CONGENITAL INTRINSIC FACTOR DEFICIENCY

1973 ◽  
Vol 62 (s236) ◽  
pp. 65-66
Author(s):  
C. FORSELL ◽  
J. KUBISTA ◽  
B. LINDBLAD ◽  
K. LINDSTRAND ◽  
G. MEEUWISSE ◽  
...  
Keyword(s):  
Intrinsic Factor ◽  
Enterochromaffin Cells ◽  
Factor Deficiency ◽  
Intrinsic Factor Deficiency

scholarly journals Nonradioactive Vitamin B12 Absorption Test Evaluated in Controls and in Patients with Inherited Malabsorption of Vitamin B12

2005 ◽  
Vol 51 (11) ◽  
pp. 2151-2155 ◽  
Author(s):  
Mustafa Vakur Bor ◽  
Mualla Çetin ◽  
Selin Aytaç ◽  
Çiğdem Altay ◽  
Ebba Nexo
Keyword(s):  
Vitamin B12 ◽  
Intrinsic Factor ◽  
Roc Curves ◽  
Absorption Test ◽  
Factor Deficiency ◽  
Biological Parents ◽  
Passive Absorption ◽  
Vitamin B12 Absorption ◽  
Intrinsic Factor Deficiency ◽  
The Mean

AbstractBackground: Current tests for evaluation of vitamin B12 absorption are problematic because they involve the use of radioactively labeled vitamin B12. We describe a vitamin B12 absorption test that circumvents this problem.Methods: We measured cobalamin or transcobalamin saturated with cobalamin (holo-TC) 24 h after three 9-μg doses of vitamin B12 given orally at 6-h intervals. We studied 17 patients with inherited malabsorption of vitamin B12 attributable to Imerslund–Grasbeck syndrome (n = 13) or intrinsic factor deficiency (n = 4), their obligate heterozygous biological parents (n = 19), and healthy controls (n = 44).Results: In the patients, the median (range) change of holo-TC after the B12 load was not significant [1 (−42 to 5) pmol/L], nor was the change of cobalamin [−3 (−32 to 22) pmol/L], consistent with a lack of measurable active or passive absorption. In controls, however, the median (range) increases of holo-TC and cobalamin were 26 (−6 to 63) pmol/L and 41 (−37 to 109) pmol/L, respectively. Similarly, the parents showed increases of 23 (−2 to 47) pmol/L and 27 (−15 to 94) pmol/L. The mean areas under the ROC curves (95% confidence intervals) were 0.97 (0.93–1.0) for holo-TC and 0.87 (0.79–0.94) for cobalamin, distinguishing patients from controls. At a cutoff of 6 pmol/L for holo-TC, the diagnostic sensitivity (95% confidence interval) was 100 (81–100)%, and the diagnostic specificity was 92 (82–97)%.Conclusion: Measurement of holo-TC after administration of vitamin B12 is a promising approach for evaluating vitamin B12 absorption.

scholarly journals Hereditary intrinsic factor deficiency in China caused by a novel mutation in the intrinsic factor gene—a case report

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Jing Ruan ◽  
Bing Han ◽  
Junling Zhuang ◽  
Miao Chen ◽  
Fangfei Chen ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Intrinsic Factor ◽  
Chinese Patient ◽  
Cobalamin Deficiency ◽  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Indirect Bilirubin ◽  
Factor Deficiency ◽  
Intrinsic Factor Deficiency

Abstract Background Hereditary intrinsic factor deficiency is a rare disease characterized by cobalamin deficiency with the lack of gastric intrinsic factor because of gastric intrinsic factor (GIF) mutations. Patients usually present with cobalamin deficiency without gastroscopy abnormality and intrinsic factor antibodies. Case presentation A Chinese patient presented with recurrent severe anemia since age 2 with low cobalamin level and a mild elevation of indirect bilirubin. The hemoglobin level normalized each time after intramuscular vitamin B12 injection. Gene test verified a c.776delA frame shift mutation in exon 6 combined with c.585C > A nonsense early termination mutation in exon 5 of GIF which result in the dysfunction of gastric intrinsic factor protein. The hereditary intrinsic factor deficiency in literature was further reviewed and the ancestry of different mutation sites were discussed. Conclusions A novel compound heterozygous mutation of GIF in a Chinese patient of hereditary intrinsic factor deficiency was reported. It was the first identified mutation of GIF in East-Asia and may indicate a new ancestry.

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