Metabolic Brain Disease

, Volume 33, Issue 3, pp 977–979 | Cite as

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

  • Fatma Derya Bulut
  • Deniz Kör
  • Berna Şeker-Yılmaz
  • Gülen Gül-Mert
  • Sebile Kılavuz
  • Neslihan Önenli-Mungan
Short Communication


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.


Ethylmalonic encephalopathy Acrocyanosis Short chain acyl-CoA dehydrogenase deficiency C4 and C5 acylcarnitines 



There are no financial supports needed for this publication.

Compliance with ethical standards

Human and animal rights

Because the patient is a minor, informed consent from the parents are taken. Also, ethical approval was taken on 07.07.2017. The ethical committee members were Selim Kadıoğlu, Davut Alptekin, Dinçer Yıldızdaş, Mehmet Kanadaşı, Gülşah Şeydaoğlu and Murat Gündüz.

Conflict of interest

The authors declare that they have no conflict of interest.

Informed consent

Informed consent was obtained from the patient’s parents.


  1. 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. CrossRefGoogle Scholar
  2. 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. CrossRefPubMedGoogle Scholar
  3. 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. CrossRefPubMedPubMedCentralGoogle Scholar
  4. 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. CrossRefPubMedGoogle Scholar
  5. 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. CrossRefPubMedGoogle Scholar
  6. 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. CrossRefPubMedGoogle Scholar
  7. 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. CrossRefPubMedGoogle Scholar
  8. 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. CrossRefPubMedGoogle Scholar
  9. Pigeon N, Campeau PM, Cyr D, Lemieux B, Clarke JT (2009) Clinical heterogeneity in ethylmalonic encephalopathy. J Child Neurol 24(8):991–006. CrossRefPubMedGoogle Scholar
  10. 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. CrossRefPubMedPubMedCentralGoogle Scholar
  11. 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. CrossRefPubMedGoogle Scholar
  12. 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. CrossRefPubMedGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2017

Authors and Affiliations

  1. 1.Department of Pediatric Metabolism and NutritionÇukurova UniversityAdanaTurkey
  2. 2.Adana Numune Teaching and Research HospitalAdanaTurkey
  3. 3.Mersin Devlet HastanesiMersinTurkey

Personalised recommendations