Congenital intrinsic factor deficiency in a Spanish patient.
Vitamin B-12 deficiency was diagnosed in a 26-year-old man. Examinations performed to determine the etiology of the deficiency showed a vitamin B-12 malabsorption in the Schilling test which was corrected by adding intrinsic factor (IF) as well as normal gastric mucosa and acid secretion, although IF in gastric juice was absent. Family study showed normal serum vitamin B-12 levels in the parents, who are first cousins, and siblings. A gastric examination in the father and the sister showed decreased IF secretion, indicating heterozygosity for the disorder.
Remacha
A F
AF
Hematology Department, Sant Pau Hospital, Barcelona, Spain.
Sambeat
M A
MA
Barceló
M J
MJ
Mones
J
J
García-Die
J
J
Gimferrer
E
E
D000328:Adult; D000752:Anemia, Pernicious / Q000151:congenital / Q000453:epidemiology / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007437:Intrinsic Factor / Q000172:deficiency*; D008297:Male; D010375:Pedigree; D013030:Spain / Q000453:epidemiology; D014806:Vitamin B 12 Deficiency / Q000235:genetics
D007437:Intrinsic Factor