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

  • Am J Med Genet A. 2011 Oct;155A(10):2571-7. doi: 10.1002/ajmg.a.34220.
Majid Alfadhel  1 ,  Yolanda P Lillquist ,  Cynthia Davis ,  Anne K Junker ,  Sylvia Stockler-Ipsiroglu
Affiliations
  • 1. Division of Biochemical Diseases, Department of Pediatrics, BC Children's Hospital Vancouver, British Columbia, Canada.
PMID: 21910240 DOI: 10.1002/ajmg.a.34220
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.