Acute and Chronic Management in an Atypical Case of Ethylmalonic Encephalopathy.

ABSTRACT: Ethylmalonic encephalopathy (EE) is caused by mutations in the ETHE1 gene. ETHE1 is vital for the catabolism of hydrogen sulfide (H₂S). Patients with pathogenic mutations in ETHE1 have markedly increased thiosulfate, which is a reliable index of H₂S levels. Accumulation of H₂S is thought to cause the characteristic metabolic derangement found in EE. Recently introduced treatment strategies in EE, such as combined use of metronidazole (MNZ) and N-acetylcysteine (NAC), are aimed at lowering chronic H₂S load. Experience with treatment strategies directed against acute episodes of metabolic decompensation (e.g., hemodialysis) is limited. Here we present an unusually mild, molecularly confirmed, case of EE in a 19-year-old male on chronic treatment wi

SUBMITTER: Kitzler TM 

PROVIDER: S-EPMC6336558 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature