Identification of Two Novel BCKDHB Mutations in Korean Siblings with Maple Syrup Urine Disease Showing Mild Clinical Presentation
Journal of Genetic Medicine
;
: 22-26, 2014.
Artigo
em Inglês
| WPRIM
| ID: wpr-7132
ABSTRACT
Maple syrup urine disease (MSUD) is a disorder that involves the metabolism of branched chain amino acids, arising from a defect in branched-chain alpha-keto acid dehydrogenase complex. Mutations have been identified in the BCKDHA, BCKDHB, or DBT genes, which encode different subunits of the BCKDH complex. Although encephalopathy and progressive neurodegeneration are its major manifestations, the severity of the disease may range from the severe classic type to milder intermediate variants. We report two Korean siblings with the milder intermediate MSUD who were diagnosed with MSUD by a combination of newborn screening tests using tandem mass spectrometry and family genetic screening for MSUD. At diagnosis, the patients' plasma levels were elevated for leucine, isoleucine, valine, and alloisoleucine, and branched-chain alpha-keto acids and branched-chain alpha-hydroxy acids were detected in their urine. BCKDHA, BCKDHB, and DBT analysis was performed, and two novel mutations were identified in BCKDHB. Our patients were thought to have the milder intermediate variant of MSUD, rather than the classic form. Although MSUD is a typical metabolic disease with poor prognosis, better outcomes can be expected if early diagnosis and prompt management are provided, particularly for milder forms of the disease.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Plasma
/
Prognóstico
/
Valina
/
Testes Genéticos
/
Programas de Rastreamento
/
Irmãos
/
3-Metil-2-Oxobutanoato Desidrogenase (Lipoamida)
/
Diagnóstico Precoce
/
Diagnóstico
/
Espectrometria de Massas em Tandem
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
/
Estudo de rastreamento
Limite:
Humanos
/
Recém-Nascido
Idioma:
Inglês
Revista:
Journal of Genetic Medicine
Ano de publicação:
2014
Tipo de documento:
Artigo
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