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, cilt.32, sa.2, ss.293-296, 2017 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 32 Sayı: 2
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1007/s11011-016-9928-5
  • Dergi Adı: METABOLIC BRAIN DISEASE
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.293-296
  • Hacettepe Üniversitesi Adresli: Evet

Özet

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.