摘要：Ethylmalonic encephalopathy (EE) is a rare metabolic disorder caused by dysfunction of ETHE1 protein, a mitochondrial dioxygenase involved in hydrogen sulfide (H2 S) detoxification. EE is usually a fatal disease with a severe clinical course mainly associated with developmental delay and regression, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhoea. Treatment includes antioxidants, antibiotics that lower H2 S levels and antispastic medications, which are not curative. The mutations causing absence of the ETHE1 protein, as is the case for the described patient, usually entail a severe fatal phenotype. Although there are rare reported cases with mild clinical findings, the mechanism leading to these milder cases is also unclear. Here, we describe an 11-year-old boy with an ETHE1 gene mutation who has no neurocognitive impairment but chronic diarrhoea, which is controlled by oral medical treatment, and progressive spastic paraparesis that responded to Achilles tendon lengthening.
关键词：ETHE1 gene ; H 2 S ; Mild course ; Therapy response ; cIII complex III ; cIV complex IV ; CAT cysteine aminotransferase ; CBS cystathionine β-synthase ; CSE cystathionine γ-lyase ; EE ethylmalonic encephalopathy ; EMA ethylmalonic acid ; GSH glutathione ; H 2 S hydrogen sulfide ; MTZ metronidazole ; NAC N -acetylcysteine ; 3-MST 3-mercaptopyruvate sulfurtransferase ; H 2 SO 3 persulfide ; SCAD short-chain acyl-CoA dehydrogenase ; SQR sulfide quinone oxidoreductase ; SDO sulfur dioxygenase ; SUOX sulfite oxidase ; TST thiosulfate sulfur transferase ; UQ quinone
