Twenty-one-year follow-up of variable onset MELAS syndrome with heteroplasmic nt3243A>G mtDNA mutation: A case report
Journal of Genetic Medicine
;
: 31-38, 2019.
Artigo
em Inglês
| WPRIM
| ID: wpr-764506
ABSTRACT
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a maternally inherited mitochondrial disorder of which m.3243A>G is the most commonly associated mutation, resulting in an inability to meet the energy requirements of various organs. MELAS poses a diagnostic challenge owing to its multiple organ involvement and great clinical variability due to its heteroplasmic nature. We report three cases from a family who were initially misdiagnosed with myasthenia gravis or undiagnosed. Although there is no optimal consensus treatment approach for patients with MELAS because of the disease's heterogeneity, our 21-year-long therapy regimen of l-arginine, l-carnitine, and coenzyme Q10 supplementation combined with dietary management appeared to provide noticeable protection from the symptoms and complications. Prompt early diagnosis is important, as optimal multidisciplinary management and early intervention may improve outcomes.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Arginina
/
Características da População
/
Acidose Láctica
/
DNA Mitocondrial
/
Carnitina
/
Seguimentos
/
Síndrome MELAS
/
Intervenção Educacional Precoce
/
Doenças Mitocondriais
/
Consenso
Tipo de estudo:
Estudo diagnóstico
/
Guia de Prática Clínica
/
Estudo observacional
/
Estudo prognóstico
/
Estudo de rastreamento
Limite:
Humanos
Idioma:
Inglês
Revista:
Journal of Genetic Medicine
Ano de publicação:
2019
Tipo de documento:
Artigo
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