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

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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.

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Authors and Affiliations

  1. Metabolism Unit, Sami Ulus Children Hospital, Babur cad. No: 44 Altındağ, 06080, Ankara, Turkey

    Mustafa Kılıç

  2. Pediatric Neurology Unit, Sami Ulus Children Hospital, Ankara, Turkey

    Özge Dedeoğlu & Deniz Yüksel

  3. Deparment of Radiology, Hacettepe University, Ankara, Turkey

    Rahşan Göçmen

  4. Pediatric Intensive Care Unit, Sami Ulus Children Hospital, Ankara, Turkey

    Selman Kesici

Authors
  1. Mustafa Kılıç
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  2. Özge Dedeoğlu
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  3. Rahşan Göçmen
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  4. Selman Kesici
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  5. Deniz Yüksel
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Correspondence to Mustafa Kılıç.

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Kılıç, M., Dedeoğlu, Ö., Göçmen, R. et al. Successful treatment of a patient with ethylmalonic encephalopathy by intravenous N-acetylcysteine. Metab Brain Dis 32, 293–296 (2017). https://doi.org/10.1007/s11011-016-9928-5

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  • DOI: https://doi.org/10.1007/s11011-016-9928-5

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