[Homozygous mutation in the intrinsic factor gene in a child with severe vitamin B12 deficiency]. / Homozygot mutation i intrinsic factor-genet hos et barn med svær vitamin B 12-mangel.
Ugeskr Laeger
; 173(34): 2047-8, 2011 Aug 22.
Article
em Da
| MEDLINE
| ID: mdl-21867658
ABSTRACT
A 28 month-old boy was hospitalized with pallor and weight stagnation. He had macrocytic anaemia and pancytopenia due to cobalamin deficiency and a rare homozygous mutation in the intrinsic factor gene. His sister showed similar symptoms at the age of 15 months. The heterozygous father had no symptoms, but did have a low cobalamin level. Gastroscopy with biopsies showed no pathology. All were given monthly cyanocobalamin injections which, however, caused leg cramps. Replacement with monthly hydroxocobalamin was successful.
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Base de dados:
MEDLINE
Assunto principal:
Deficiência de Vitamina B 12
/
Fator Intrínseco
Idioma:
Da
Ano de publicação:
2011
Tipo de documento:
Article