Abstract
Cobalamin C (CblC) disease is the most common inherited disorder of intracellular cobalamin metabolism. It is a multisystemic disorder mainly affecting the eye and brain and characterized biochemically by methylmalonic aciduria, low methionine level, and homocystinuria. We report a patient found to have CblC disease who initially presented with low carnitine and normal propionylcarnitine (C3) levels on newborn screen. Newborn screening likely failed to detect CblC in this patient because of both his low carnitine level and the presence of a mild phenotype.
Competing interests: None declared
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Communicated by: Rodney Pollitt, PhD
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Synopsis
A CblC patient may be missed on newborn screening if he carries a late-onset, mild mutation and has low total carnitine levels.
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Rebecca Ahrens-Nicklas declares she has no conflicts of interest.
Esra Serdaroglu declares she has no conflicts of interest.
Colleen Muraresku declares she has no conflicts of interest.
Can Ficicioglu declares he has no conflicts of interest.
This article does not contain any studies with human or animal subjects performed by any of the authors.
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Concept/design: RA, ES, CM, CF
Drafting of article: RA, ES
Revision of article: RA, ES, CM, CF
Approval of article: RA, ES, CM, CF
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Ahrens-Nicklas, R.C., Serdaroglu, E., Muraresku, C., Ficicioglu, C. (2015). Cobalamin C Disease Missed by Newborn Screening in a Patient with Low Carnitine Level. In: Zschocke, J., Baumgartner, M., Morava, E., Patterson, M., Rahman, S., Peters, V. (eds) JIMD Reports, Volume 23. JIMD Reports, vol 23. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2015_429
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DOI: https://doi.org/10.1007/8904_2015_429
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