Article
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.
BMC medical genetics - 20 Apr 2018
Lisyová Jana, Chandoga Ján, Jungová Petra, Repiský Marcel, Knapková Mária, Machková Martina, Dluholucký Svetozár, Behúlová Darina, Šaligová Jana, Potočňáková Ľudmila, Lysinová Miroslava, Böhmer Daniel
Abstract excerpt
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 the majority of cases. Since the expansion of newborn screenings, more than three hundred probands were admitted for...
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