The present report describes a Chinese male who presented for the first time with recurrent encephalopathy and hyperammonaemia at the age of 52 years. He was found to have citrullinaemia. To our knowledge, this is the first Chinese with citrullinaemia and the first non-Japanese who has the variant form of presentation. The patient also has the longest asymptomatic period for citrullinaemia so far described. The patient's biochemical derangement, clinical features and the postulation of his late presentation are discussed. It is noteworthy that simple therapeutic measures, such as lactulose and dietary protein restriction, controlled his symptoms well.
L e t t e r t o t h e E d i t o rDear Sir,We would like to thank the authors for taking note of our study. (1) As mentioned by Yasri and Wiwanitkit (2) with regard to the viral factor, the Q80K mutation has been associated with use of direct-acting antivirals (3) in the study by Ruggerio et al. (4) Their treatment group included simeprevir, which is an NS3A inhibitor.With regard to the use of other cytokines, an excellent study has been done by Sghaier et al. (5) However, we did not do this variant testing, as our study was done much earlier. The use of IL2BB polymorphism is mentioned as a "viable treatment option", and this has been studied in our group previously. (6) Yours sincerely,
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