Effectiveness of carbohydrate-restricted diet and arginine granules therapy for adult-onset type II citrullinemia: a case report of siblings showing homozygous SLC25A13 mutation with and without the disease.

@article{Imamura2003EffectivenessOC,
  title={Effectiveness of carbohydrate-restricted diet and arginine granules therapy for adult-onset type II citrullinemia: a case report of siblings showing homozygous SLC25A13 mutation with and without the disease.},
  author={Yasushi Imamura and Keiko Kobayashi and Toshihiko Shibatou and Sachiko Aburada and Kenji Tahara and Osamu Kubozono and Takeyori Saheki},
  journal={Hepatology research : the official journal of the Japan Society of Hepatology},
  year={2003},
  volume={26 1},
  pages={68-72}
}
Case 1 is a 37-year-old Japanese man who was admitted to this hospital with a disturbance of consciousness. A diagnosis of adult-onset type II citrullinemia was made by DNA analysis of SLC25A13 (851del4/851del4) and measurement of hepatic ASS activity (2% of control value). After regaining consciousness, Case 1 was started on a dietary therapy, revealing that hypertriglyceridemia and ketogenesis impairment deteriorated on a low-protein diet and ameliorated on a carbohydrate-restricted (high… CONTINUE READING
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