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Am J Med Genet A. 2011 Oct;155A(10):2571-7. doi: 10.1002/ajmg.a.34220. Epub 2011 Sep 9.

Eighteen-year follow-up of a patient with cobalamin F disease (cblF): report and review.

Author information

1
Division of Biochemical Diseases, Department of Pediatrics, BC Children's Hospital Vancouver, British Columbia, Canada.

Abstract

Cobalamin F disease (cblF) is a rare disorder of intracellular cobalamin metabolism resulting in failure to thrive, recurrent stomatitis, skin rash, megaloblastic anemia, hypotonia, seizures, and intellectual disability. Data on long-term outcomes are not available. We report on the outcome of a patient with cblF disease with a frameshift mutation in the LMBRD1 gene after 18 years of intramuscular hydroxycobalamin treatment.

PMID:
21910240
DOI:
10.1002/ajmg.a.34220
[Indexed for MEDLINE]

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