Adultos jóvenes con deficiencia de metilentetrahidrofolato reductasa y aciduria etilenmalónica. Reporte de dos casos y revisión de tema
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La combinación de la Aciduria etilmalónica y la homocistinuria son desórdenes del metabolismo heredados con un amplio espectro de manifestaciones clínicas que se pueden presentar desde la infancia hasta los adultos mayores. Sin embargo, con la detección temprana de estas enfermedades, en el periodo neonatal, se tendría la oportunidad de mejorar la calidad de vida de los pacientes afectados.
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