An unusually high frequency of SCAD deficiency caused by two pathogenic variants in the ACADS gene and its relationship to the ethnic structure in Slovakia

• Main Authors: Jana Lisyová (Author), Ján Chandoga (Author), Petra Jungová (Author), Marcel Repiský (Author), Mária Knapková (Author), Martina Machková (Author), Svetozár Dluholucký (Author), Darina Behúlová (Author), Jana Šaligová (Author), Ľudmila Potočňáková (Author), Miroslava Lysinová (Author), Daniel Böhmer (Author)
• Formato: Livro
• Publicado em: BMC, 2018-04-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Abstract Background Short-chain acyl-CoA dehydrogenase deficiency (SCADD) represents a rare autosomal recessive inborn metabolic disorder of mitochondrial β-oxidation of monocarboxylic acids. Clinical symptoms can vary from a severe life-threatening condition to an asymptomatic state, reported in th...