Top

Published in:

01-06-2018 | Short Communication

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

Published in: Metabolic Brain Disease | Issue 3/2018

Abstract

Ethylmalonic encephalopathy is a very rare autosomal recessively inherited inborn error of metabolism; characterized by encephalopathy, recurrent petechiae without bleeding diathesis, chronic diarrhea, and orthostatic acrocyanosis. Here, we describe a case of ethylmalonic encephalopathy with late onset neurologic symptoms and a confusing family history of two deceased brothers with the wrong suspicion of short chain acyl-CoA dehydrogenase deficiency.

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 (2010) Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy. J Inherit Metab Dis 33(Suppl 3):443–453. https://doi.org/10.1007/s10545-010-9227-y CrossRef

Burlina A, Zacchello F, Dionisi-Vici C, Bertini E, Sabetta G, Bennet MJ et al (1991) New clinical phenotype of branched-chain acyl-CoA oxidation defect. Lancet 338(8781):1522–1523. https://doi.org/10.1016/0140-6736(91)92338-3 CrossRefPubMed

Di Meo I, Auricchio A, Lamperti C, Burlina A, Viscomi C, Zeviani M et al (2012) Virus-mediated gene therapy in a mouse model of ethylmalonic encephalopathy. EMBO Mol Med 4(9):1008–1014. https://doi.org/10.1002/emmm.201201433 CrossRefPubMedPubMedCentral

Di Rocco M, Caruso U, Briem E, Rossi A, Allegri AE, Buzzi D et al (2006) A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation. Mol Genet Metab 89(4):395–397. https://doi.org/10.1016/j.ymgme.2006.05.010 CrossRefPubMed

Dionisi-Vici C, Diodato D, Torre G, Picca S, Pariante R, Giuseppe Picardo S (2016) Liver transplant in ethylmalonic encephalopathy: a new treatment for an otherwise fatal disease. Brain 139(Pt 4):1045–1051. https://doi.org/10.1093/brain/aww013 CrossRefPubMed

Mineri R, Rimoldi M, Burlina AB, Koskull S, Perletti C, Heese B, von Dobeln U, Mereghetti P, di Meo I, Invernizzi F, Zeviani M, Uziel G, Tiranti V (2008) Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy. World. J Med Genet 45(7):473–478. https://doi.org/10.1136/jmg.2008.058271 CrossRefPubMed

Nowaczyk MJ, Lehotay DC, Platt BA, Fisher L, Tan R, Phillips H et al (1998) Ethylmalonic and methylsuccinic aciduria in ethylmalonic encephalopathy arise from abnormal isoleucine metabolism. Metab Clin Exp 47(7):836–839. https://doi.org/10.1016/S0026-0495(98)90122-6 CrossRefPubMed

Papetti L, Garone G, Schettini L, Giordano C, Nicita F, Papoff P, Zeviani M, Leuzzi V, Spalice A (2015) Severe early onset ethylmalonic encephalopathy with west syndrome. Metab Brain Dis 30(6):1537–1545. https://doi.org/10.1007/s11011-015-9707-8 CrossRefPubMed

Pigeon N, Campeau PM, Cyr D, Lemieux B, Clarke JT (2009) Clinical heterogeneity in ethylmalonic encephalopathy. J Child Neurol 24(8):991–006. https://doi.org/10.1177/0883073808331359 CrossRefPubMed

Tiranti V, D'Adamo P, Briem E, Ferrari G, Mineri R, Lamantea E et al (2004) Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. Am J Hum Genet 74(2):239–252. https://doi.org/10.1086/381653 CrossRefPubMedPubMedCentral

Viscomi C, Burlina AB, Dweikat I, Savoiardo M, Lamperti C, Hildebrandt T, Tiranti V, Zeviani M (2010) Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy. Nat Med 16(8):869–871. https://doi.org/10.1038/nm.2188 CrossRefPubMed

Yoon HR, Hahn SH, Ahn YM, Jang SH, Shin YJ, Lee EH, Ryu KH, Eun BL, Rinaldo P, Yamaguchi S (2001) Therapeutic trial in the first three Asian cases of ethylmalonic encephalopathy: response to riboflavin. J Inherit Metab Dis 24(8):870–873. https://doi.org/10.1023/A:1013948409790 CrossRefPubMed

Title: 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
Publication date: 01-06-2018
Publisher: Springer US
Published in: Metabolic Brain Disease / Issue 3/2018
Print ISSN: 0885-7490
Electronic ISSN: 1573-7365
DOI: https://doi.org/10.1007/s11011-017-0152-8

Keynote webinar | Spotlight on medication adherence

Springer Medicine

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

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Please log in to get access to this content

Other articles of this Issue 3/2018

Methylphenidate disrupts cytoskeletal homeostasis and reduces membrane-associated lipid content in juvenile rat hippocampus

Cardiovascular profile improvement during Natalizumab treatment

Zeaxanthin improved diabetes-induced anxiety and depression through inhibiting inflammation in hippocampus

Ocimum basilicum improve chronic stress-induced neurodegenerative changes in mice hippocampus

Ethanol extract of Rehmannia glutinosa exerts antidepressant-like effects on a rat chronic unpredictable mild stress model by involving monoamines and BDNF

Serum ischemia modified albumin is a possible new marker of oxidative stress in phenylketonuria