Scoping review del manejo nutricional en tirosinemia tipo II
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Esta revisión de alcance investigó las estrategias nutricionales para el manejo de la tirosinemia tipo II, un trastorno genético autosómico recesivo causado por mutaciones en el gen que codifica la enzima tirosina aminotransferasa (TAT), cuya deficiencia provoca una acumulación de tirosina y sus metabolitos. Las manifestaciones clínicas incluyeron alteraciones neurológicas, cutáneas y visuales. El manejo de la enfermedad es complejo y depende en gran medida de una dieta con restricción de por vida de tirosina y fenilalanina, baja en proteínas, combinada con suplementos de aminoácidos apropiados para la edad. Un control dietético tardío puede estar relacionado con ciertos trastornos del lenguaje y la poca adherencia, con recurrencia de los síntomas. Por ello, el objetivo fue identificar, explorar y sintetizar la evidencia disponible con relación al manejo nutricional de esta patología, dada la escasa literatura y su impacto sistémico. Se recopilaron 38 artículos publicados en los últimos ocho años, seleccionados mediante estrategias de búsqueda en bases de datos científicas, empleando términos MESH y siguiendo las guías PRISMA-ScR 2018 y JBI 2024. Se analizaron dietas restrictivas en tirosina y fenilalanina, suplementación con aminoácidos y su relación con la prevención de complicaciones. Los resultados confirmaron que la restricción dietética fue fundamental para reducir los síntomas, prevenir complicaciones y mejorar la calidad de vida de los pacientes, aunque se requieren más estudios que evalúen adherencia y suplementación a largo plazo. Palabras clave: Tirosinemia tipo 2, TAT, Sindrome de Richner-hanhart, Dieta, Manejo nutricional
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Abstract
Purpose: Tyrosinemia type II (HTII) is an inborn error of tyrosine metabolism characterized by cutaneous, ophthalmologic, and neurological manifestations. Its treatment relies primarily on nutritional intervention through the restriction of tyrosine and phenylalanine. However, available evidence on dietary guidelines remains scarce and poorly contextualized. This scoping review aimed to identify nutritional strategies used in HTII over the past eight years, highlight critical gaps in clinical-nutritional management, and describe the epidemiological situation in Colombia. In addition, a nutritional table adapted to the local dietary diversity is proposed as an innovative therapeutic support tool. Methods: A scoping review was conducted following the PRISMA-ScR 2018 guidelines and the Joanna Briggs Institute (JBI) 2024 methodology. International scientific databases were searched to identify studies published between 2017 and 2025 addressing the nutritional management of HTII. Additionally, official reports from the Colombian National Institute of Health and the Ministry of Health were reviewed to characterize the national epidemiological landscape. Results: Among 38 included studies, 76% mentioned dietary restriction of tyrosine and phenylalanine, and 34% referred to overall protein restriction. Nutritional supplementation was reported as follows: amino acids (15%), vitamins, minerals, and omega-3 fatty acids (13%), antioxidants such as N-acetylcysteine and deferoxamine (10%), prescribed formulas (7%), and protein substitutes (2%) (Table 1). A high heterogeneity was observed in target tyrosine levels (serum and urine), monitoring frequency, and criteria for food inclusion based on protein or amino acid content. In response, a nutritional table (Table 2) was developed to classify foods according to protein, tyrosine, and phenylalanine content, using international databases and locally adapted values to support clinical decision-making and improve treatment adherence. Regarding epidemiological findings, only one HTII case was reported in the Sivigila surveillance system between 2017 and February 2025 (Table 3), while the Ministry of Health reported two cases (Table 4). Underreporting and incomplete data on age, location, and year of diagnosis limit public health planning and hinder international comparability. Conclusions: There is a critical gap in the standardization of nutritional treatment for HTII. The available evidence is limited and lacks regional dietary adaptations. This review proposes a practical and contextualized nutritional table that may assist healthcare professionals and patients, improve adherence, prevent systemic complications, and serve as a foundation for future national guidelines and clinical studies. Strengthening epidemiological surveillance is equally essential to ensure a comprehensive approach to this potentially treatable condition.
Palabras clave
Tirosinemia tipo 2, TAT, Sindrome de Richner-hanhart, Dieta, Manejo nutricional, Epidemiología