Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.18/3630
Título: Adult-onset form in VLCAD deficiency: seven cases
Autor: Sousa, Carmen
Marcão, Ana
Nogueira, Célia
Fonseca, Helena
Rocha, Hugo
Silva, Carla
Guimas, Arlindo
Evangelista, Teresinha
Maré, Rui
Vilarinho, Laura
Palavras-chave: Genética VLCAD
Doenças Genéticas
VLCAD Deficiency
Data: 19-Mar-2015
Resumo: Very long chain acyl-Co-A dehydrogenase deficiency (VLCADD, MIM 201475) is an autosomal recessive disorder characterized by impaired mitochondrial β-oxidation of fatty acids with a chain length between 14 and 18 carbons. The prevalence of VLCAD deficiency in Portugal is 1/101,613. VLCADD has three forms of clinical presentation: severe early-onset; intermediate with childhood onset and adult-onset, of mild severity, characterized by exercise intolerance, myalgia and recurrent episodes of rhabdomyolysis. The development of electrospray ionization tandem mass spectrometry (MS/MS) has allowed beyond the screening of neonatal forms a marked improvement on diagnosis of the adult onset form. The authors report the acyl-carnitines profile that revealed accumulation of tetradecenoyl carnitine (C14:1) in seven individuals with clinical symptoms with the ages between 11 and 63. The eldest patient was diagnosed at the age of 63 years. These results were confirmed by molecular ACADVL gene analysis. When rhabdomyolysis is present in a patient, and after differential diagnosis, it is important to consider the possibility of a VLCAD deficiency. This late-onset form may be undetectable by acyl-carnitine profile in asymptomatic period, and only in crisis is informative. However, if VLCADD is considered the molecular analysis of ACADVL should be performed in all suspected cases.
URI: http://hdl.handle.net/10400.18/3630
Aparece nas colecções:DGH - Posters/abstracts em congressos internacionais

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