Abstract
Disorders of intracellular cobalamin (vitamin B12) metabolism result from deficient synthesis of the coenzymes derived from vitamin B12: adenosylcobalamin and methylcobalamin. Disturbances of cobalamin-cofactor synthesis result in elevated levels of homocysteine and/or methylmalonic acid. Nine defects of intracellular cobalamin metabolism have been defined. The most common of these disorders is cblC (combined methylmalonic aciduria and homocystinuria). The cblD disorder is rare with fewer than twenty cases reported in the literature. Some cblD patients have combined methylmalonic aciduria and homocystinuria (referred to as “cblD original,” “cblD-combined,” or herein “cblD-MMA/HC”); some have isolated homocystinuria (referred to as “cblD-variant 1” or herein “cblD-HC”); and others have isolated methylmalonic aciduria (called “cblD-variant 2” or herein “cblD-MMA”). Only six cases of cblD-HC have been defined thus far. We report the 7th case of cblD-HC. The clinical manifestations, biochemical profile, genetic mutation, and plausible ancestry are discussed.
Competing interests: None declared
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Communicated by: Matthias Baumgartner
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Celia Atkinson, Isabelle R. Miousse, David Watkins, David S. Rosenblatt, and Julian AJ Raiman declare that they have no conflict of interest.
Details of Contributions of Authors
Dr. Celia Atkinson: Wrote the manuscript and participated in clinical care and clinical diagnosis of the patient.
Dr. Isabelle R. Miousse: Revised the manuscript and participated in the biochemical and molecular diagnosis of the patient.
Dr. David Watkins: Revised the manuscript and participated in the biochemical and molecular diagnosis of the patient.
Dr. David S. Rosenblatt: Revised the manuscript and participated in the biochemical and molecular diagnosis of the patient.
Dr. Julian AJ Raiman: Revised the manuscript and participated in the clinical care and clinical diagnosis of the patient. GUARANTOR.
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Atkinson, C., Miousse, I.R., Watkins, D., Rosenblatt, D.S., Raiman, J.A.J. (2014). Clinical, Biochemical, and Molecular Presentation in a Patient with the cblD-Homocystinuria Inborn Error of Cobalamin Metabolism. In: Zschocke, J., Gibson, K., Brown, G., Morava, E., Peters, V. (eds) JIMD Reports, Volume 17. JIMD Reports, vol 17. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2014_340
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DOI: https://doi.org/10.1007/8904_2014_340
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