A 25-year-old Chinese man presented with a 2-year history of recurrent coma. His plasma ammonia level was extremely elevated, with raised citrulline level and absence of argininosuccinic acid. Adult-onset citrullinaemia, a condition rarely reported outside the Japanese population, was diagnosed. Serial magnetic resonance (MR) imaging, including diffusion-weighted (DW) studies, showed initial involvement of the insula cortex and cingulate gyrus, changing to a pattern of multiple small lesions in the depths of the cortical sulci. This changing pattern of lesions over time on DW MR imaging has not previously been described in adult-onset citrullinaemia.
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University Children's Hospital Zurich and Children's Research Center, University of Zurich, Zurich, Switzerland.
Citrin deficiency (CD) is a recessive, liver disease caused by sequence variants in the SLC25A13 gene encoding a mitochondrial aspartate-glutamate transporter. CD manifests as different age-dependent phenotypes and affects crucial hepatic metabolic pathways including malate-aspartate-shuttle, glycolysis, gluconeogenesis, de novo lipogenesis and the tricarboxylic acid and urea cycles. Although the exact pathophysiology of CD remains unclear, impaired use of glucose and fatty acids as energy sources due to NADH shuttle defects and PPARα downregulation, respectively, indicates evident energy deficit in CD hepatocytes.
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