MAPLE SYRUP URINE DISEASE: REPORT OF TWO CASES

• Autores: Mendoza Jamanca, Wendy Lizeth, Dávila Aliaga, Carmen Rosa, Medina Alva, Pilar, Alvarado Merino, Rosa
• Formato: artículo
• Fecha de Publicación: 2024
• Institución: Instituto Nacional Materno Perinatal
• Repositorio: Revista Peruana de Investigación Materno Perinatal
• Lenguaje: español
• OAI Identifier: oai:investigacionmaternoperinatal.inmp.gob.pe:article/391
• Enlace del recurso: https://investigacionmaternoperinatal.inmp.gob.pe/index.php/rpinmp/article/view/391
• Nivel de acceso: acceso abierto
• Materia: Enfermedad de la orina con olor a jarabe de arce; neonato; errores Innatos del Metabolismo de los Aminoácidos; Enfermedades Metabólicas; Maple syrup urine disease; Amino Acid Metabolism; neonate; Metabolic Diseases

Maple syrup urine disease is a congenital metabolic disorder, commonly presenting as acute neonatal encephalopathy. Case 1. A 7-day-old neonate exhibited somnolence and refusal to breastfeed, later developing respiratory failure, neurological impairment, metabolic acidosis, and death. Elevated levels of branched-chain amino acids and a confirmatory genetic test established the diagnosis. Case 2. A 10-day-old neonate was admitted with breastfeeding refusal, hypoglycemia, and seizures. Elevated branched-chain amino acids confirmed the diagnosis genetically. The patient received parenteral nutrition and a special formula, leading to progressive neurological improvement. Currently, at 2 years and 7 months, the patient remains under multidisciplinary follow-up. Conclusion. Early detection of maple syrup urine disease through neonatal screening significantly improves neurological outcomes.