Abstract
Cobalamin A deficiency (cblA) is an inherited disorder of intracellular cobalamin metabolism, caused by impaired 5′-deoxy-adenosylcobalamin (AdoCbl) synthesis. Hydroxocobalamin (OHCbl) is the cornerstone of cblA treatment because vitamin B12 may completely restore AdoCbl deficiency. Parenteral administration, intravenous, subcutaneous or intramuscular, is generally required to achieve effect. Daily injections represent a problem for the parents and the caregivers, and this may lead to poor compliance and scarce adherence to the long-term treatment.
Our report describes the case of a patient with cblA deficiency, diagnosed by newborn screening, positively treated with daily OHCbl administration by a subcutaneous injection port (i-port advanceTM). After the insertion of the device, we checked methylmalonic acid (MMA) levels weekly for the first month and then monthly. MMA level remained always in the normal range.
To date, placement of a subcutaneous catheter to minimize the pain related to parenteral vitamin B12 punctures has been described only in a patient with deficiency of the enzyme methylmalonyl-CoA mutase (MUT). No other experiences are described in the literature.
Our case shows that OHCbl administration using a subcutaneous catheter is safe and effective even in patients with cblA deficiency. The use of subcutaneous devices may reduce difficulties in providing parenteral daily injections which is the main reason discouraging physicians and families to use such an invasive treatment. Moreover, our experience may be translated to other inherited metabolic disorders, such as cobalamin C (cblC) disease, which may require daily parenteral drug administration.
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References
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Acknowledgments
The authors are grateful to Prof. Dr. med. Matthias Baumgartner and Prof. Dr. med. Johannes Häberle of University Children’s Hospital Zȕrich, Division for Metabolic Diseases, for complementation analysis on fibroblasts culture and molecular analysis of MMAA gene.
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Communicated by: Manuel Schiff
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Evelina Maines declares that she has no conflict of interest.
Grazia Morandi declares that she has no conflict of interest.
Giorgia Gugelmo declares that she has no conflict of interest.
Florina Ion-Popa declares that she has no conflict of interest.
Natascia Campostrini declares that she has no conflict of interest.
Andrea Pasini declares that he has no conflict of interest.
Monica Vincenzi declares that she has no conflict of interest.
Francesca Teofoli declares that she has no conflict of interest.
Marta Camilot declares that she has no conflict of interest.
Andrea Bordugo declares that he has no conflict of interest.
All procedures followed were in accordance with the Helsinki Declaration of 1975.
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Dr. Maines E and Dr. Morandi G conceived the study and wrote the draft. Dr. Ion-Popa F, Campostrini N, Pasini A, Vincenzi M, Teofoli F, and Camilot M performed biochemical analysis and ensured the accuracy of the data. Dr. Gugelmo G performed dietetic evaluation of the patient. Dr. Bordugo A revised the manuscript critically for important intellectual content.
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© 2016 Society for the Study of Inborn Errors of Metabolism (SSIEM)
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Maines, E. et al. (2016). Vitamin B12 Administration by Subcutaneous Catheter Device in a Cobalamin A (cblA) Patient. In: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (eds) JIMD Reports, Volume 35. JIMD Reports, vol 35. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2016_20
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DOI: https://doi.org/10.1007/8904_2016_20
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