Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.18/2151
Título: Intermittent rhabdomyolysis with adult onset associated with a mutation in the ACADVL gene
Autor: Antunes, Antonio
Nogueira, Célia
Rocha, Hugo
Vilarinho, Laura
Evangelista, Teresinha
Palavras-chave: VLCAD
Doenças Genéticas
Data: Dez-2013
Editora: Lippincott, Williams & Wilkins
Citação: J Clin Neuromuscul Dis. 2013 Dec;15(2):69-72. doi: 10.1097/CND.0000000000000012
Resumo: Deficiency of very-long-chain acyl-CoA dehydrogenase (VLCAD) is an autosomal recessive disease. Most common phenotypes occur in the neonatal period or in childhood with cardiomyopathy, hepatomegaly, and hypoketogenic hypoglycemia. Juvenile/adult-onset is characterized by exercise intolerance and recurrent rhabdomyolysis triggered by prolonged exercise or fasting. This article reports a patient with the homozygous mutation c.1097G>A (p.R366H) in the ACADVL gene. In Portugal, VLCAD deficiency became part of the neonatal screening plan in 2004, and as of 2012, 8 early-onset cases have been diagnosed, giving an incidence rate of 1:97.238 per 737.902 newborns. This patient was diagnosed outside of the neonatal screening plan. Beta-oxidation defects pose a diagnostic challenge because of their transient clinical and laboratorial manifestations and the absence of morphological changes in muscle biopsy further complicate matters, especially in the late-onset forms of the disease. The adult phenotype of VLCAD deficiency is highlighted, emphasizing the need for a high suspicion index and the value of tandem mass spectrometry for the diagnosis
URI: http://hdl.handle.net/10400.18/2151
ISSN: 1522-0443
Versão do Editor: http://journals.lww.com/jcnmd/pages/articleviewer.aspx?year=2013&issue=12000&article=00007&type=abstract
Aparece nas colecções:DGH - Artigos em revistas internacionais

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