Article
High prevalence of carriers of variant c.1528G>C of HADHA gene causing long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) in the population of adult Kashubians from North Poland.
PloS one - 1 Jan 2017
Nedoszytko Bogusław, Siemińska Alicja, Strapagiel Dominik, Dąbrowski Sławomir, Słomka Marcin, Sobalska-Kwapis Marta, Marciniak Błażej, Wierzba Jolanta, Skokowski Jarosław, Fijałkowski Marcin, Nowicki Roman, Kalinowski Leszek
Abstract excerpt
BACKGROUND/OBJECTIVES: The mitochondrial β-oxidation of fatty acids is a complex catabolic pathway. One of the enzymes of this pathway is the heterooctameric mitochondrial trifunctional protein (MTP), composed of four α- and β-subunits. Mutations in MTP genes (HADHA and HADHB), both located on chromosome 2p23, cause MTP deficiency, a rare autosomal recessive metabolic disorder characterized by decreased activity...
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