Pharmaceutical contribution in hyperhomocysteinemia. A case report

• Autores: Cristina Gastalver Martín, J.M. Carro Teller, María Eugenia Méndez Esteban, José Miguel Ferrari Piquero
• Localización: European journal of clinical pharmacy: atención farmacéutica, ISSN 2385-409X, Vol. 15, Nº. 6, 2013, pág. 8
• Idioma: inglés
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• Resumen

  • Objective: To determine the importance of the pharmaceutical contribution in the treatment of rare diseases.

    Method: A newborn infant admitted for a metabolic pathology examination, the patient presented remethylation deficiency and requiring immediate treatment with methionine. Considering the treatment urgency and while the preparation was being processed, the resident pharmacists obtained the methionine thanks to an external pharmacy. We performed a literature review in PubMed to learn more thoroughly about the disease and its treatment.

    Results: Treatment with methionine was imitated on the day of diagnosis. The final diagnosis was remethylation defect due to MtHFr deficiency. Currently, in the pharmacy service there is a protocol of «methionine sachets» for such indication.

    Conclusions: Rare diseases are difficult to diagnose, as they require nonmarketed and early treatments where the pharmaceutical support is essential to prepare them and search of alternatives