scholarly journals Combined congenital deficiencies of intrinsic factor and R binder

Blood ◽  
1988 ◽  
Vol 72 (3) ◽  
pp. 940-943
Author(s):  
J Zittoun ◽  
J Leger ◽  
J Marquet ◽  
R Carmel

Abstract Coexisting deficiencies of both intrinsic factor (IF) and R binder were identified in an Algerian boy who presented with severe megaloblastic anemia, growth retardation, and neurologic dysfunction with typical features of subacute combined degeneration of the spinal cord. The anemia responded completely to cyanocobalamin and folic acid. IF was absent from gastric juice, but acid secretion and gastric mucosa were normal. R binders were absent from gastric juices as well as from serum, saliva, and polymorphonuclear leukocytes. The patient's father exhibited absence of R binder in his serum with a low serum vitamin B12 level and was asymptomatic. This unique case of simultaneous IF and R binder deficiencies suggests a genetic association between these two functionally and immunologically dissimilar, but structurally close vitamin B12-binding proteins.

Blood ◽  
1988 ◽  
Vol 72 (3) ◽  
pp. 940-943 ◽  
Author(s):  
J Zittoun ◽  
J Leger ◽  
J Marquet ◽  
R Carmel

Coexisting deficiencies of both intrinsic factor (IF) and R binder were identified in an Algerian boy who presented with severe megaloblastic anemia, growth retardation, and neurologic dysfunction with typical features of subacute combined degeneration of the spinal cord. The anemia responded completely to cyanocobalamin and folic acid. IF was absent from gastric juice, but acid secretion and gastric mucosa were normal. R binders were absent from gastric juices as well as from serum, saliva, and polymorphonuclear leukocytes. The patient's father exhibited absence of R binder in his serum with a low serum vitamin B12 level and was asymptomatic. This unique case of simultaneous IF and R binder deficiencies suggests a genetic association between these two functionally and immunologically dissimilar, but structurally close vitamin B12-binding proteins.


2017 ◽  
Vol 6 (12) ◽  
pp. 5562
Author(s):  
Tiana Mary Alexander ◽  
Vineeta Pande ◽  
Sharad Agarkhedkar ◽  
Dnyaneshwar Upase

Megaloblastic anemia is a common feature between 6 months – 2 years and rarely occurs after 5 years of age, especially in a child consuming non-vegetarian diet. B12 deficiency may occur after 5 years of age because of chronic diarrhea, malabsorption syndrome, or intestinal surgical causes. Pernicious anemia causes B12 deficiency, but nutritional B12 deficiency with subacute combined degeneration causing ataxia is rare.


1982 ◽  
Vol 28 (10) ◽  
pp. 2161-2165 ◽  
Author(s):  
I W Chen ◽  
E B Silberstein ◽  
H R Maxon ◽  
C P Volle ◽  
B H Sohnlein

Abstract We evaluated performance characteristics of a semiautomated radioassay system (ARIA II, Becton Dickinson Immunodiagnostics) for simultaneous measurements of vitamin B12 and folic acid in serum. The system requires off-line boiling of samples, which are then processed on-line. The automated process includes dispensing of boiled samples, tracers, and binders (purified intrinsic factor and milk binder); incubation, separation of bound and free ligands; elution; counting radioactivity of 57Co and 125I; and data reduction. Results were compared with those obtained by a manual method (Diagnostic Products Corp.). Although the nonspecific binding of the ARIA II is more than double that of the manual system, the precision values are comparable (within- and between-assay CVs are less than 8.5%). Values obtained with these two systems correlated well except that folic acid concentrations obtained with ARIA II tended to be lower at high folic acid concentrations. We observed no significant total carryover or drift in the semiautomated system.


2009 ◽  
Vol 10 (2) ◽  
pp. 83-89 ◽  
Author(s):  
Ricardo Alves Mesquita ◽  
Bruna Gonçalves Garcia ◽  
Marcelo Ferreira Pinto Cardoso ◽  
Omar de Faria ◽  
Ricardo Santiago Gomez

Abstract Aim The aim of this report is to present the management of a patient with pernicious anemia afflicted with recurrent aphthous stomatitis (RAS). Background RAS is one of the most common lesions of the oral mucosa. Although the exact etiology of RAS is still unknown different hematinic deficiencies have been proposed. Case Report Painful recurrent ulcers covered with a grayish pseudomembrane surrounded by an erythematous margin were identified on the tongue and in the buccal mucosa of a 71-year-old woman. The patient also presented with depapilation of the tongue. The clinical diagnosis was RAS. Laboratory tests including a hemogram were ordered to determine existing levels of folic acid, iron, ferritin, and vitamins B2, B6, and B12. Levels of serum vitamin B12 and serum hemoglobin were low. The laboratory investigation also showed a medium corpuscular volume of 104.1 fl. A gastroduodenoscopy revealed no macroscopic abnormality. A gastric biopsy showed mucosal atrophy in the gastric corpus with evidence of intestinal metaplasia. Antibodies against an intrinsic factor were negative. The diagnosis pernicious anemia was made, with RAS caused by vitamin B12 malabsorption. Treatment consisted of the administration of 1.0 ml of hydroxocolabamin intramuscularly twice weekly over four weeks followed by 1.0 ml once weekly for four weeks. Clinical resolution was observed after two months. Summary The association of RAS with vitamin B12 malabsorption is a rare event. However, along with conventional RAS clinical management, iron, folic acid, vitamin B deficiencies, and nutritional intolerance must be considered. Evaluation of the predisposing factors is imperative in treating patients with RAS including vitamin B12 malabsorption. Clinical Significance Determination of the levels of vitamin B12 should be the basis for replacement therapy. Such therapy can be considered a benefit to the patients with RAS as its etiology remains unclear. Clinicians must be alert to the possibility this lesion could be a signal of systemic disease. Citation Garcia BG, Cardoso MFP, Faria O, Gomez RS, Mesquita RA. A Case Report of Pernicious Anemia and Recurrent Aphthous Stomatitis. J Contemp Dent Pract 2009 March; (10)2:083-089.


2020 ◽  
Vol 12 (1) ◽  
pp. 27-34 ◽  
Author(s):  
Daisuke Hara ◽  
Masashi Akamatsu ◽  
Heisuke Mizukami ◽  
Bunta Kato ◽  
Takaaki Suzuki ◽  
...  

Subacute combined degeneration of the spinal cord (SCDS) is a neurodegenerative disease characterized by subacute progression in the central and peripheral nervous systems mainly caused by vitamin B12 deficiency. It is known that typical SCDS is frequently accompanied by megaloblastic anemia and increased serum methylmalonic acid (MMA) or homocysteine (Hcy) levels on laboratory findings, and marked abnormalities on spinal cord magnetic resonance imaging (MRI). A 45-year-old woman was admitted to our hospital with a 2-year history of worsening mild weakness, numbness in bilateral lower limbs, and gait disturbance. On admission, as laboratory findings, blood count showed macrocytosis without anemia, and biochemical tests showed mild reduction in total serum vitamin B12 level and no increase of MMA and Hcy levels; there were no abnormal findings on spinal cord MRI. After administration of vitamin B12, her sensorimotor symptoms were improved and laboratory examination showed that macrocytosis was improved, serum vitamin B12 was increased, and serum MMA levels were decreased. This improved clinical course and the laboratory findings following vitamin B12 administration confirmed the diagnosis of SCDS due to vitamin B12 deficiency. SCDS presents with highly variable symptoms and laboratory findings, and observation of MMA levels and neurologic symptoms before and after vitamin B12 administration may be useful for diagnosing SCDS.


1977 ◽  
Vol 23 (9) ◽  
pp. 1609-1614 ◽  
Author(s):  
S Gutcho ◽  
L Mansbach

Abstract The radioassays of vitamin B12 and folic acid can be carried out in a single tube to give the simultaneous assay of both vitamins in 100 microliter of serum. Release of bound vitamins from their endogenous binders and the destruction of these binders are effected by a heating step at pH 9.3. The subsequent binding reactions with hog intrinsic factor and milk binder protein proceed advantageously and simultaneously in the same tube at pH 9.3. A single set of dual reagents replaces two sets of reagents that would normally be used for separate radioassays. Complete separation of bound radioactivities, [57Co]cyanocobalamin and 125I-labeled folate derivative, is obtained in a dual-channel gamma counter with no requirement for any correction for spill-over of counting data. Analytical results are comparable to those found for previously developed individual radioassays. The simultaneous assay has decreased technical time of analysis for these interrelated vitamins by about 50%.


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