Ampliación del cribado neonatal en Canarias (2ª parte). Enfermedad de la orina con olor a jarabe de arce, Homocistinuria y Tirosinemias tipo 1 y 2
- Eduardo Valerio Hernández
- Alejandra González Delgado
- Carmen Rosa Rodríguez Fernández-Oliva
- Mercedes Murray Hurtado
- Mónica Ruiz Pons Mónica
- Luis Peña Quintana
ISSN: 1131-6128
Year of publication: 2023
Volume: 47
Issue: 1
Pages: 48-57
Type: Article
More publications in: Canarias Pediátrica
Abstract
Expanded newborn screening in Canary Islands is moving towards mass biochemical detection of metabolopathies using tandem mass spectrometry (MS/MS). In 2022, Maple Syrup Urine Disease (MSUD) and homocystinuria (HCY) were included, and in 2023, screening for tyrosinemia types 1 and 2 will be added. These are important diseases with completely different prognoses if they are screened and detected in time, and their treatments initiated in time, in addition to some specific treatments such as in the case of tyrosinemia type 1, are essential for the proper clinical and biochemical control of patients.