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

BULUT F. D., Kor D., Seker-Yilmaz B., Gul-Mert G., Kilavuz S., Onenli-Mungan N.

METABOLIC BRAIN DISEASE, vol.33, no.3, pp.977-979, 2018 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 33 Issue: 3
  • Publication Date: 2018
  • Doi Number: 10.1007/s11011-017-0152-8
  • Journal Name: METABOLIC BRAIN DISEASE
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.977-979
  • Keywords: Ethylmalonic encephalopathy, Acrocyanosis, Short chain acyl-CoA dehydrogenase deficiency, C4 and C5 acylcarnitines, GENE, MUTATIONS, ETHE1
  • Çukurova University Affiliated: Yes

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.