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Ethylmalonic encephalopathy
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
A different type of disorder in which ethylmalonic aciduria is associated with a very different phenotype and normal oxidation of fatty acids was first reported in 1991 and 1994 [5–7]. It is recognized most readily by the association of encephalopathy, acrocyanosis, and petechiae. Death in infancy is also characteristic. After the delineation of the molecular defect in the ETHE1 gene, this disease was distinguished as ethylmalonic encephalopathy [8].
A comprehensive review of treatments for hydrogen sulfide poisoning: past, present, and future
Published in Toxicology Mechanisms and Methods, 2023
Cristina Santana Maldonado, Abigail Weir, Wilson K. Rumbeiha
Hydrogen sulfide (H2S) is a toxic gas with a distinctive smell of rotten egg. The discovery of endogenously produced H2S led to research aiming to understand its physiological roles and its potential applications for the treatment of several chronic diseases via multiple mechanisms including anti-inflammatory and cytoprotective effects in tissue injury, anti-oxidant properties, and vasodilation among others (Goodwin et al. 1989; Savage and Gould 1990; Wallace and Wang 2015). Endogenously, H2S is produced from the amino acids homocysteine and serine found in the mitochondria and cytosol (Kamoun 2004; Kimura 2011). Many have cited the effectiveness of treating patients with respiratory diseases with low concentrations of H2S. Wang et al. (2020) showed the successful use of 40 ppm H2S for 8 h daily to treat chronic obstructive pulmonary disease (COPD) in rats. The H2S donor sodium hydrosulfide (NaHS) has been cited to have a protective effect on pulmonary artery endothelial cells in rat models of COPD (Wang et al. 2020). Notably, however, genetic defects in the metabolism of endogenously produced H2S to nontoxic sulfate metabolite such as that caused by ETHE1 deficiency have been associated with chronic H2S poisoning (Beauchamp et al. 1984; Szabo 2007; Tiranti et al. 2009; Tiranti and Zeviani 2013; Di Meo et al. 2015). ETHE1 deficiency and similar genetic defects cause H2S-induced chronic neurodegeneration from accumulating H2S leading to death in the first decade of life (Tiranti et al. 2004).