Successful treatment of a patient with ethylmalonic encephalopathy by intravenous N-acetylcysteine

Kilic M., DEDEOĞLU O., GÖÇMEN R., Kesici S., YÜKSEL D.

METABOLIC BRAIN DISEASE, vol.32, no.2, pp.293-296, 2017 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 32 Issue: 2
  • Publication Date: 2017
  • Doi Number: 10.1007/s11011-016-9928-5
  • Journal Name: METABOLIC BRAIN DISEASE
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.293-296
  • Hacettepe University Affiliated: Yes

Abstract

Ethylmalonic encephalopathy (EE) is an autosomal recessive devastating metabolic disorder affecting the brain, gastrointestinal tract, peripheral vessels and rarely the other vascular organs. We report a 10-month-old girl who presented as a meningococcemia clinic but later diagnosed ethylmalonic encephalopathy. Molecular analyses revealed a homozygous c.554 T > G; p. L185R mutation in ETHE1 gene. She was only partially benefited from riboflavine, coenzyme Q10, metronidazole, N-acetylcysteine and symptomatic treatment and discharged from hospital with the sequela of oxygene dependance and developmental delay. We observed N-acetylcysteine 100 mg/kg/day intravenous infusion theraphy may be the most important drug especially in comatous EE patients.