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

Authors

  • Majid Alfadhel,

    1. Division of Biochemical Diseases, Department of Pediatrics, BC Children's Hospital Vancouver, British Columbia, Canada
    2. Division of Genetics, Department of Pediatrics, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia
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  • Yolanda P. Lillquist,

    Corresponding author
    1. Division of Biochemical Diseases, Department of Pediatrics, BC Children's Hospital Vancouver, British Columbia, Canada
    • Division of Biochemical Diseases, Department of Pediatrics, BC Children's Hospital, Room K3-203, 4480 Oak Street, Vancouver, BC, Canada V6H3V4.

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  • Cynthia Davis,

    1. Department of Psychology, BC Children's Hospital Vancouver, British Columbia, Canada
    2. Department of Pediatrics, BC Children's Hospital Vancouver, British Columbia, Canada
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  • Anne K. Junker,

    1. Division of Infectious and Immunological Diseases, Department of Pediatrics, University of British Columbia and Children's & Women's Health Centre of British Columbia, Vancouver, British Columbia, Canada
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  • Sylvia Stockler-Ipsiroglu

    1. Division of Biochemical Diseases, Department of Pediatrics, BC Children's Hospital Vancouver, British Columbia, Canada
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  • How to Cite this Article: Alfadhel M, Lillquist YP, Davis C, Junker AK, Stockler-Ipsiroglu S. 2011. Eighteen-year follow-up of a patient with cobalamin F disease (cblF): Report and review. Am J Med Genet Part A 155:2571–2577.

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. © 2011 Wiley-Liss, Inc.

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