Literature DB >> 11916321

Therapeutic trial in the first three Asian cases of ethylmalonic encephalopathy: response to riboflavin.

H R Yoon1, S H Hahn, Y M Ahn, S H Jang, Y J Shin, E H Lee, K H Ryu, B L Eun, P Rinaldo, S Yamaguchi.   

Abstract

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 treatment. The precise pathogenesis of ethylmalonic encephalopathy has not been fully elucidated, but riboflavin treatment may be helpful.

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Year:  2001        PMID： 11916321     DOI： 10.1023/a:1013948409790

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  3 in total

1.  New clinical phenotype of branched-chain acyl-CoA oxidation defect.

Authors:  A Burlina; F Zacchello; C Dionisi-Vici; E Bertini; G Sabetta; M J Bennet; D E Hale; E Schmidt-Sommerfeld; P Rinaldo
Journal:  Lancet       Date:  1991-12-14       Impact factor: 79.321

2.  Newly identified forms of electron transfer flavoprotein deficiency in two patients with glutaric aciduria type II.

Authors:  S Yamaguchi; T Orii; Y Suzuki; K Maeda; M Oshima; T Hashimoto
Journal:  Pediatr Res       Date:  1991-01       Impact factor: 3.756

3.  A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts.

Authors:  A B Burlina; C Dionisi-Vici; M J Bennett; K M Gibson; S Servidei; E Bertini; D E Hale; E Schmidt-Sommerfeld; G Sabetta; F Zacchello
Journal:  J Pediatr       Date:  1994-01       Impact factor: 4.406
  3 in total
  7 in total

1.  Turkish case of ethylmalonic encephalopathy misdiagnosed as short chain acyl-CoA dehydrogenase deficiency.

Authors:  Fatma Derya Bulut; Deniz Kör; Berna Şeker-Yılmaz; Gülen Gül-Mert; Sebile Kılavuz; Neslihan Önenli-Mungan
Journal:  Metab Brain Dis       Date:  2017-11-20       Impact factor: 3.584

Review 2.  Disruption of mitochondrial homeostasis in organic acidurias: insights from human and animal studies.

Authors:  Moacir Wajner; Stephen I Goodman
Journal:  J Bioenerg Biomembr       Date:  2011-02       Impact factor: 2.945

3.  Mutation analysis of copper transporter genes in patients with ethylmalonic encephalopathy, mitochondriopathies and copper deficiency phenotypes.

Authors:  X Fu; P Rinaldo; S H Hahn; H Kodama; S Packman
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

4.  Severe early onset ethylmalonic encephalopathy with West syndrome.

Authors:  Laura Papetti; Giacomo Garone; Livia Schettini; Carla Giordano; Francesco Nicita; Paola Papoff; Massimo Zeviani; Vincenzo Leuzzi; Alberto Spalice
Journal:  Metab Brain Dis       Date:  2015-07-21       Impact factor: 3.584

5.  Neurological and Vascular Manifestations of Ethylmalonic Encephalopathy.

Authors:  Ali Reza Tavasoli; Parastoo Rostami; Mahmoud Reza Ashrafi; Parvaneh Karimzadeh
Journal:  Iran J Child Neurol       Date:  2017

6.  Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

Authors:  Valeria Tiranti; Pio D'Adamo; Egill Briem; Gianfrancesco Ferrari; Rossana Mineri; Eleonora Lamantea; Hanna Mandel; Paolo Balestri; Maria-Teresa Garcia-Silva; Brigitte Vollmer; Piero Rinaldo; Si Houn Hahn; James Leonard; Shamima Rahman; Carlo Dionisi-Vici; Barbara Garavaglia; Paolo Gasparini; Massimo Zeviani
Journal:  Am J Hum Genet       Date:  2004-01-19       Impact factor: 11.025

Review 7.  Riboflavin Deficiency-Implications for General Human Health and Inborn Errors of Metabolism.

Authors:  Signe Mosegaard; Graziana Dipace; Peter Bross; Jasper Carlsen; Niels Gregersen; Rikke Katrine Jentoft Olsen
Journal:  Int J Mol Sci       Date:  2020-05-28       Impact factor: 5.923
  7 in total

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