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.
Artículo
en Inglés
| 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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Arginina
/
Características de la Población
/
Acidosis Láctica
/
ADN Mitocondrial
/
Carnitina
/
Estudios de Seguimiento
/
Síndrome MELAS
/
Intervención Educativa Precoz
/
Enfermedades Mitocondriales
/
Consenso
Tipo de estudio:
Estudio diagnóstico
/
Guía de Práctica Clínica
/
Estudio observacional
/
Estudio pronóstico
/
Estudio de tamizaje
Límite:
Humanos
Idioma:
Inglés
Revista:
Journal of Genetic Medicine
Año:
2019
Tipo del documento:
Artículo
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