Your browser doesn't support javascript.
loading
Treatment of maple syrup urine disease: Benefits, risks, and challenges of liver transplantation.
Deon, Marion; Guerreiro, Gilian; Girardi, Julia; Ribas, Graziela; Vargas, Carmen Regla.
Afiliação
  • Deon M; Faculdade de Farmácia, UFRGS, Porto Alegre, Rio Grande do Sul, Brazil.
  • Guerreiro G; Serviço de Genética Médica, HCPA, UFRGS, Porto Alegre, Rio Grande do Sul, Brazil.
  • Girardi J; Faculdade de Farmácia, UFRGS, Porto Alegre, Rio Grande do Sul, Brazil.
  • Ribas G; Serviço de Genética Médica, HCPA, UFRGS, Porto Alegre, Rio Grande do Sul, Brazil.
  • Vargas CR; Residência em Análises Clínicas do Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil.
Int J Dev Neurosci ; 83(6): 489-504, 2023 Oct.
Article em En | MEDLINE | ID: mdl-37340513
Maple syrup urine disease (MSUD) is caused by a deficiency in the activity of the branched-chain α-ketoacid dehydrogenase (BCKD) complex, promoting the accumulation of the branched-chain amino acids (BCAA) leucine, isoleucine, and valine, as well as their respective α-keto acids. MSUD is an autosomal recessive hereditary metabolic disorder characterized by ketoacidosis, ataxia, coma, and mental and psychomotor retardation. The mechanisms involved in the brain damage caused by MSUD are not fully understood. Early diagnosis and treatment, as well as proper control of metabolic decompensation crises, are crucial for patients' survival and for a better prognosis. The recommended treatment consists of a high-calorie diet with restricted protein intake and specific formulas containing essential amino acids, except those accumulated in MSUD. This treatment will be maintained throughout life, being adjusted according to the patients' nutritional needs and BCAA concentration. Because dietary treatment may not be sufficient to prevent neurological damage in MSUD patients, other therapeutic strategies have been studied, including liver transplantation. With transplantation, it is possible to obtain an increase of about 10% of the normal BCKD in the body, an amount sufficient to maintain amino acid homeostasis and reduce metabolic decompensation crises. However, the experience related to this practice is very limited when considering the shortage of liver for transplantation and the risks related to the surgical procedure and immunosuppression. Thus, the purpose of this review is to survey the benefits, risks, and challenges of liver transplantation in the treatment of MSUD.
Assuntos
Palavras-chave
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transplante de Fígado / Doença da Urina de Xarope de Bordo Tipo de estudo: Etiology_studies / Risk_factors_studies / Screening_studies Limite: Humans Idioma: En Revista: Int J Dev Neurosci Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Brasil País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transplante de Fígado / Doença da Urina de Xarope de Bordo Tipo de estudo: Etiology_studies / Risk_factors_studies / Screening_studies Limite: Humans Idioma: En Revista: Int J Dev Neurosci Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Brasil País de publicação: Estados Unidos