A 17-Month-old Boy With Pancytopenia Caused by a Rare Genetic Defect of Vitamin B12 Malabsorption

2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Keturah M. Baker ◽  
Nirzar S. Parikh ◽  
Kyle T. Salsbery ◽  
Gene R. Shaw ◽  
Robert D. Steiner ◽  
...  
2010 ◽  
Vol 80 (45) ◽  
pp. 330-335 ◽  
Author(s):  
Lindsay Helen Allen

Vitamin B12 deficiency is common in people of all ages who consume a low intake of animal-source foods, including populations in developing countries. It is also prevalent among the elderly, even in wealthier countries, due to their malabsorption of B12 from food. Several methods have been applied to diagnose vitamin B12 malabsorption, including Schilling’s test, which is now used rarely, but these do not quantify percent bioavailability. Most of the information on B12 bioavailability from foods was collected 40 to 50 years ago, using radioactive isotopes of cobalt to label the corrinoid ring. The data are sparse, and the level of radioactivity required for in vivo labeling of animal tissues can be prohibitive. A newer method under development uses a low dose of radioactivity as 14C-labeled B12, with measurement of the isotope excreted in urine and feces by accelerator mass spectrometry. This test has revealed that the unabsorbed vitamin is degraded in the intestine. The percent bioavailability is inversely proportional to the dose consumed due to saturation of the active absorption process, even within the range of usual intake from foods. This has important implications for the assessment and interpretation of bioavailability values, setting dietary requirements, and interpreting relationships between intake and status of the vitamin.


Blood ◽  
1972 ◽  
Vol 40 (5) ◽  
pp. 747-753 ◽  
Author(s):  
H. G. Desai ◽  
F. P. Antia

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.


1972 ◽  
Vol 287 (9) ◽  
pp. 425-429 ◽  
Author(s):  
Max Katz ◽  
Sook K. Lee ◽  
Bernard A. Cooper

1991 ◽  
Vol 101 (4) ◽  
pp. 1039-1045 ◽  
Author(s):  
Paolo M. Suter ◽  
Barbara B. Golner ◽  
Barry R. Goldin ◽  
Frank D. Morrow ◽  
Robert M. Russell

1972 ◽  
Vol 63 (6) ◽  
pp. 1085 ◽  
Author(s):  
William M. Notis

1994 ◽  
Vol 19 (11) ◽  
pp. 1001-1003 ◽  
Author(s):  
MARVIN H. LUCAS ◽  
ABDEL-HAMEED H. ELGAZZAR

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