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Altered sulfide (H(2)S) metabolism in ethylmalonic encephalopathy.
Tiranti V, Zeviani M. Tiranti V, et al. Cold Spring Harb Perspect Biol. 2013 Jan 1;5(1):a011437. doi: 10.1101/cshperspect.a011437. Cold Spring Harb Perspect Biol. 2013. PMID: 23284046 Free PMC article. Review.
This review will cover the physiological role and the pathogenic effects of H(2)S, focusing on ethylmalonic encephalopathy, a human mitochondrial disorder caused by genetic abnormalities of sulfide metabolism. ...
This review will cover the physiological role and the pathogenic effects of H(2)S, focusing on ethylmalonic encephalopathy, a …
Ethylmalonic and methylsuccinic aciduria in ethylmalonic encephalopathy arise from abnormal isoleucine metabolism.
Nowaczyk MJ, Lehotay DC, Platt BA, Fisher L, Tan R, Phillips H, Clarke JT. Nowaczyk MJ, et al. Metabolism. 1998 Jul;47(7):836-9. doi: 10.1016/s0026-0495(98)90122-6. Metabolism. 1998. PMID: 9667231
Ethylmalonic encephalopathy (EE), an organic aciduria of unknown etiology characterized by developmental delay, hypotonia, and vascular instability associated with lactic acidemia and urinary excretion of ethylmalonic acid (EMA) and methylsuccinic acid (MSA), has be …
Ethylmalonic encephalopathy (EE), an organic aciduria of unknown etiology characterized by developmental delay, hypotonia, and …
Response to medical and a novel dietary treatment in newborn screen identified patients with ethylmalonic encephalopathy.
Boyer M, Sowa M, Di Meo I, Eftekharian S, Steenari MR, Tiranti V, Abdenur JE. Boyer M, et al. Mol Genet Metab. 2018 May;124(1):57-63. doi: 10.1016/j.ymgme.2018.02.008. Epub 2018 Feb 14. Mol Genet Metab. 2018. PMID: 29526615
Ethylmalonic encephalopathy (EE) is a devastating neurodegenerative disease caused by mutations in the ETHE1 gene critical for hydrogen sulfide (H(2)S) detoxification. ...With dietary treatment EMA levels were further reduced by 42% to a mean of 233 (n = 8, SD = 52, …
Ethylmalonic encephalopathy (EE) is a devastating neurodegenerative disease caused by mutations in the ETHE1 gene critical for …
Effective AAV-mediated gene therapy in a mouse model of ethylmalonic encephalopathy.
Di Meo I, Auricchio A, Lamperti C, Burlina A, Viscomi C, Zeviani M. Di Meo I, et al. EMBO Mol Med. 2012 Sep;4(9):1008-14. doi: 10.1002/emmm.201201433. Epub 2012 Aug 20. EMBO Mol Med. 2012. PMID: 22903887 Free PMC article.
Ethylmalonic encephalopathy (EE) is an invariably fatal disease, characterized by the accumulation of hydrogen sulfide (H(2)S), a highly toxic compound. ...Here, we show that AAV2/8-mediated, ETHE1-gene transfer to the liver of a genetically, metabolically and clini …
Ethylmalonic encephalopathy (EE) is an invariably fatal disease, characterized by the accumulation of hydrogen sulfide (H(2)S) …
Improved clinical outcome following liver transplant in patients with ethylmalonic encephalopathy.
Tam A, AlDhaheri NS, Mysore K, Tessier ME, Goss J, Fernandez LA, D'Alessandro AM, Schwoerer JS, Rice GM, Elsea SH, Scaglia F. Tam A, et al. Am J Med Genet A. 2019 Jun;179(6):1015-1019. doi: 10.1002/ajmg.a.61104. Epub 2019 Mar 12. Am J Med Genet A. 2019. PMID: 30864297 Free PMC article.
Ethylmalonic encephalopathy (EE) is a rapidly progressive autosomal recessive mitochondrial disease caused by biallelic pathogenic variants in the ETHE1 gene that encodes the mitochondrial sulfur dioxygenase. ...
Ethylmalonic encephalopathy (EE) is a rapidly progressive autosomal recessive mitochondrial disease caused by biallelic pathog …
Successful treatment of a patient with ethylmalonic encephalopathy by intravenous N-acetylcysteine.
Kılıç M, Dedeoğlu Ö, Göçmen R, Kesici S, Yüksel D. Kılıç M, et al. Metab Brain Dis. 2017 Apr;32(2):293-296. doi: 10.1007/s11011-016-9928-5. Epub 2016 Nov 9. Metab Brain Dis. 2017. PMID: 27830356
Ethylmalonic encephalopathy (EE) is an autosomal recessive devastating metabolic disorder affecting the brain, gastrointestinal tract, peripheral vessels and rarely the other vascular organs. We report a 10-month-old girl who presented as a meningococcemia clinic bu …
Ethylmalonic encephalopathy (EE) is an autosomal recessive devastating metabolic disorder affecting the brain, gastrointestina …
The role of methionine in ethylmalonic encephalopathy with petechiae.
McGowan KA, Nyhan WL, Barshop BA, Naviaux RK, Yu A, Haas RH, Townsend JJ. McGowan KA, et al. Arch Neurol. 2004 Apr;61(4):570-4. doi: 10.1001/archneur.61.4.570. Arch Neurol. 2004. PMID: 15096407
DESIGN: Examination of patterns of organic acids excreted in the urine before and following loading doses of isoleucine and methionine. SETTING: General clinical research center. PATIENT: An infant with ethylmalonic aciduria, global developmental delay, acrocyanosis, and i …
DESIGN: Examination of patterns of organic acids excreted in the urine before and following loading doses of isoleucine and methionine. SETT …
Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy.
Viscomi C, Burlina AB, Dweikat I, Savoiardo M, Lamperti C, Hildebrandt T, Tiranti V, Zeviani M. Viscomi C, et al. Nat Med. 2010 Aug;16(8):869-71. doi: 10.1038/nm.2188. Epub 2010 Jul 25. Nat Med. 2010. PMID: 20657580
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a mitochondrial matrix sulfur dioxygenase, leading to failure to detoxify sulfide, a product of intestinal anaerobes and, in trace amounts, tissues. Metronidazole, a bactericide, or N-acetylcysteine, a pre …
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a mitochondrial matrix sulfur dioxygenase, leading to failure to …
Therapeutic trial in the first three Asian cases of ethylmalonic encephalopathy: response to riboflavin.
Yoon HR, Hahn SH, Ahn YM, Jang SH, Shin YJ, Lee EH, Ryu KH, Eun BL, Rinaldo P, Yamaguchi S. Yoon HR, et al. J Inherit Metab Dis. 2001 Dec;24(8):870-3. doi: 10.1023/a:1013948409790. J Inherit Metab Dis. 2001. PMID: 11916321 Clinical Trial.
Three Korean girls with ethylmalonic encephalopathy, the first Asian cases, were identified. In all three cases, we observed slight improvement in motor functions, cognitive behaviours and chronic mucoid diarrhoea after treatment with riboflavin and/or coenzyme Q10 …
Three Korean girls with ethylmalonic encephalopathy, the first Asian cases, were identified. In all three cases, we observed s …
Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy.
Barth M, Ottolenghi C, Hubert L, Chrétien D, Serre V, Gobin S, Romano S, Vassault A, Sefiani A, Ricquier D, Boddaert N, Brivet M, de Keyzer Y, Munnich A, Duran M, Rabier D, Valayannopoulos V, de Lonlay P. Barth M, et al. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S443-53. doi: 10.1007/s10545-010-9227-y. Epub 2010 Oct 27. J Inherit Metab Dis. 2010. PMID: 20978941
Ethylmalonic encephalopathy (EE) is a rare metabolic disorder caused by dysfunction of ETHE1, a mitochondrial dioxygenase involved in hydrogen sulfide (H2S) detoxification. ...An isoleucine-restricted diet for 8 days corrected some of the abnormalities but led to no …
Ethylmalonic encephalopathy (EE) is a rare metabolic disorder caused by dysfunction of ETHE1, a mitochondrial dioxygenase invo …