THE ASSOCIATION OF PROTEIN-LOSING ENTEROPATHY WITH COBALAMIN-C DEFECT

Authors
ELLAWAY C CHRISTODOULOU J KAMATH R CARPENTER K WILCKEN B
Citation
C. Ellaway et al., THE ASSOCIATION OF PROTEIN-LOSING ENTEROPATHY WITH COBALAMIN-C DEFECT, Journal of inherited metabolic disease, 21(1), 1998, pp. 17-22
Citations number
11
Categorie Soggetti
Endocrynology & Metabolism","Genetics & Heredity
Journal title
Journal of inherited metabolic disease → ACNP
ISSN journal
01418955
Volume
21
Issue
1
Year of publication
1998
Pages
17 - 22
Database
ISI
SICI code
0141-8955(1998)21:1<17:TAOPEW>2.0.ZU;2-V
Abstract
We report a male infant with cobalamin C defect whose clinical course was complicated by diarrhoea suggestive of a protein-losing enteropath y, failure to thrive, macrocytosis and thromocytopenia which resolved with hydroxocobalamin treatment. Protein-losing enteropathy has not pr eviously been reported in association with cobalamin C defect and, if unrecognized, could cause considerable morbidity.