Skip to main content

Advertisement

Log in

Citrin deficiency presenting with ketotic hypoglycaemia and hepatomegaly in childhood

  • Short Report
  • Published:
European Journal of Pediatrics Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

References

  1. Imamura Y, Kobayashi K, Shibatou T, Aburada S, Tahara K, Kubozono O, Saheki T (2003) 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. Hepatol Res 26: 68–72

    Article  PubMed  Google Scholar 

  2. Kobayashi K, Sinasac DS, Iijima M, Boright AP, Begum L, Lee JR, Yasuda T, Ikeda S, Hirano R, Terazono H, Crackower MA, Kondo I, Tsui LC, Scherer SW, Saheki T (1999) The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein. Nat Genet 22: 159–163

    Article  CAS  PubMed  Google Scholar 

  3. Ohura T, Kobayashi K, Abukawa D, Tazawa Y, Aikawa J, Sakamoto O, Saheki T, Iinuma K (2003) A novel inborn error of metabolism detected by elevated methionine and/or galactose in newborn screening: neonatal intrahepatic cholestasis caused by citrin deficiency. Eur J Pediatr 162: 317–322

    CAS  PubMed  Google Scholar 

  4. Saheki T, Kobayashi K (2002) Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD). J Hum Genet 47: 333–341

    Article  CAS  PubMed  Google Scholar 

  5. Tomomasa T, Kobayashi K, Kaneko H, Shimura H, Fukusato T, Tabata M, Inoue Y, Ohwada S, Kasahara M, Morishita Y, Kimura M, Saheki T, Morikawa A (2001) Possible clinical and histologic manifestations of adult-onset type II citrullinemia in early infancy. J Pediatr 138: 741–743

    Article  CAS  PubMed  Google Scholar 

  6. Yamaguchi N, Kobayashi K, Yasuda T, Nishi I, Iijima M, Nakagawa M, Osame M, Kondo I, Saheki T (2002) Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations. Hum Mutat 19: 122–130

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Sachiko Kitanaka.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Hachisu, M., Oda, Y., Goto, M. et al. Citrin deficiency presenting with ketotic hypoglycaemia and hepatomegaly in childhood. Eur J Pediatr 164, 109–110 (2005). https://doi.org/10.1007/s00431-004-1549-z

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00431-004-1549-z

Keywords

Navigation