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Mutation analysis for a family affected with riboflavin responsive-multiple acyl-CoA dehydrogenase deficiency / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 428-432, 2014.
Artigo em Chinês | WPRIM | ID: wpr-291759
ABSTRACT
<p><b>OBJECTIVE</b>To identify pathogenic mutation in a boy affected with riboflavin responsive-multiple acyl-CoA dehydrogenase deficiency (RR-MADD).</p><p><b>METHODS</b>The patient was initially diagnosed as primary carnitine deficiency (PCD) and has been treated with carnitine supplementation for 7 years. Clinical manifestations and characteristics of fibula muscle specimen were analyzed. Potential mutation in electron transfer flavoprotein dehydrogenase (ETFDH) gene (for the patient and his parents) and carnitine transfer protein gene (SLC22A5) (for the patient) was screened.</p><p><b>RESULTS</b>Electronic microscopy of the muscle specimen has suggested lipid storage myopathy. Mutation analysis has found that the patient carried compound heterozygous mutations, c.250G>A and c.380T>C, in exon 3 of the ETFDH gene, whilst his father and mother were heterozygous for the c.380T>C and c.250G>A mutations, respectively. Screening of the SLC22A5 gene has yielded no clinically meaningful result. After the establishment of diagnosis of RR-MADD, the condition of the patient has improved greatly with supplementation of high doses of riboflavin along with continuous carnitine supplement.</p><p><b>CONCLUSION</b>The c.250G>A (p.Ala84Thr) mutation of exon 3 of the ETFDH gene has been a hot spot in Southern Chinese population, whilst the c.380T>C (p.Leu127Pro) is rarely reported. Our case has suggested that therapeutic diagnosis cannot substitute genetic testing. The mechanism for having stabilized the patient with only carnitine supplementation for 7 years needs further investigation.</p>
Assuntos
Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Riboflavina / Análise Mutacional de DNA / Dados de Sequência Molecular / Sequência de Bases / Músculo Esquelético / Proteínas de Transporte de Cátions Orgânicos / Flavoproteínas Transferidoras de Elétrons / Deficiência Múltipla de Acil Coenzima A Desidrogenase / Membro 5 da Família 22 de Carreadores de Soluto / Oxirredutases atuantes sobre Doadores de Grupo CH-NH Tipo de estudo: Estudo prognóstico Limite: Adolescente / Adulto / Criança / Feminino / Humanos / Masculino Idioma: Chinês Revista: Chinese Journal of Medical Genetics Ano de publicação: 2014 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Riboflavina / Análise Mutacional de DNA / Dados de Sequência Molecular / Sequência de Bases / Músculo Esquelético / Proteínas de Transporte de Cátions Orgânicos / Flavoproteínas Transferidoras de Elétrons / Deficiência Múltipla de Acil Coenzima A Desidrogenase / Membro 5 da Família 22 de Carreadores de Soluto / Oxirredutases atuantes sobre Doadores de Grupo CH-NH Tipo de estudo: Estudo prognóstico Limite: Adolescente / Adulto / Criança / Feminino / Humanos / Masculino Idioma: Chinês Revista: Chinese Journal of Medical Genetics Ano de publicação: 2014 Tipo de documento: Artigo