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

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.

• Authors: Mustafa Kılıç, Özge Dedeoğlu, Rahşan Göçmen, Selman Kesici, Deniz Yüksel
• Journal: Metabolic brain disease (Metab Brain Dis) Vol. 32 Issue 2 Pg. 293-296 (04 2017) ISSN: 1573-7365 [Electronic] United States
• PMID: 27830356 (Publication Type: Case Reports, Journal Article)

Chemical References

• ETHE1 protein, human
• Malonates
• Mitochondrial Proteins
• Nucleocytoplasmic Transport Proteins
• Acetylcysteine

Topics

• Acetylcysteine (administration & dosage, therapeutic use)
• Brain Diseases, Metabolic, Inborn (diagnostic imaging, drug therapy, metabolism)
• Coma (drug therapy, etiology)
• Female
• Humans
• Infant
• Infusions, Intravenous
• Magnetic Resonance Imaging
• Malonates
• Mitochondrial Proteins (genetics)
• Nucleocytoplasmic Transport Proteins (genetics)
• Purpura (diagnostic imaging, drug therapy, metabolism)