Turkish case of ethylmalonic encephalopathy misdiagnosed as short chain acyl-CoA dehydrogenase deficiency
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.
KeywordsEthylmalonic 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 was obtained from the patient’s parents.
- 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 CrossRefGoogle Scholar
- 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 CrossRefPubMedGoogle Scholar
- 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 CrossRefPubMedGoogle Scholar