Treatment by haemodialysis in a case of adult-onset (type II) citrullinaemia in a Chinese patient with pulmonary tuberculosis

A 52-year-old male, with a history of delayed childhood development and recent pulmonary tuberculosis, presented to a regional hospital for acute onset of confusion 2 weeks after the start of antituberculous medications. The clinical course was later complicated by repeated episodes of seizure. Initial assessment showed that his Glasgow coma scale was 13/15. He had generalized brisk reflexes and bilateral up-going plantar response. His initial laboratory tests were unremarkable, apart from mildly raised alanine transaminase (ALT) and alkaline phosphatase (ALP) (both two times the upper limit of normal) and raised international normalized ratio (INR) (1.4). CAT scans of brain and lumbar puncture were unremarkable, while electroencephalogram showed evidence of encephalopathy. Serum ammonia was detected to be markedly raised. Liver biopsy and metabolic screening were performed. Citrulline was raised in urine and in blood. A diagnosis of type II (adult onset) citrullinaemia with hyperammonaemic encephalopathy precipitated by a hypercatabolic state due to pulmonary tuberculosis and liver derangement caused by the antituberculous medications was made. He was treated successfully by haemodialysis, with improvement of confusion and lowering of ammonia. The management of type II (adult onset) citrullinaemia is discussed. Case