Vitamin B12 Administration by Subcutaneous Catheter Device in a Cobalamin A (cblA) Patient
| Autor: | Giorgia Gugelmo, Andrea Pasini, Marta Camilot, Francesca Teofoli, Monica Vincenzi, Evelina Maines, Natascia Campostrini, F. Ion-Popa, Grazia Morandi, Andrea Bordugo |
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| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty Newborn screening Pediatrics business.industry Methylmalonic acid 030105 genetics & heredity Hydroxocobalamin Cobalamin 03 medical and health sciences chemistry.chemical_compound Catheter Subcutaneous injection 0302 clinical medicine chemistry medicine Vitamin B12 CBLC Intensive care medicine business 030217 neurology & neurosurgery medicine.drug |
| Zdroj: | JIMD Reports ISBN: 9783662558324 |
| DOI: | 10.1007/8904_2016_20 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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