Aumento acentuado da leucina como fator de mau prognóstico na doença da urina de xarope de bordo - relato de caso

• Main Authors: Bruna Duque de Almeida Braga (Author), Gessianni Claire Alves de Souza (Author), Filipe Marinho Pinheiro da Camara (Author), Ana Cecília Menezes de Siqueira (Author), Lucas Victor Alves (Author)
• Format: Book
• Published: Sociedade Brasileira de Pediatria, 2023-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

INTRODUCTION: Leucinosis or Maple Syrup Disease (MSD) is an innate metabolism error caused by a deficiency in the activity of the alpha-keto acid-dehydrogenase enzyme complex, which leads to the accumulation of essential branched-chain amino acids (leucine, valine, and isoleucine), leucine is partic...