NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses
Sign Up to like & getrecommendations! Published in 2019 at "Brain"
DOI: 10.1093/brain/awy310
Abstract: Physical stress, including high temperatures, may damage the central metabolic nicotinamide nucleotide cofactors [NAD(P)H], generating toxic derivatives [NAD(P)HX]. The highly conserved enzyme NAD(P)HX dehydratase (NAXD) is essential for intracellular repair of NAD(P)HX. Here we present… read more here.
Keywords: disorder; dehydratase naxd; nad dehydratase; dehydratase ... See more keywords
Metabolic cardiomyopathy associated with a compound heterozygous variant in NAD(P)HX dehydratase: a case report and literature review
Sign Up to like & getrecommendations! Published in 2024 at "Translational Pediatrics"
DOI: 10.21037/tp-24-476
Abstract: Background Metabolic cardiomyopathy is characterized by structural and functional changes to the heart and interstitial fibrosis without coronary artery disease or hypertension. Inborn metabolic defects are a common cause of cardiomyopathy in children. There are… read more here.
Keywords: cardiomyopathy; case; compound heterozygous; metabolic cardiomyopathy ... See more keywords