Journal of Inherited Metabolic Disease

, Volume 31, Issue 3, pp 386–394 | Cite as

Reduced carbohydrate intake in citrin-deficient subjects

  • T. Saheki
  • K. Kobayashi
  • M. Terashi
  • T. Ohura
  • Y. Yanagawa
  • Y. Okano
  • T. Hattori
  • H. Fujimoto
  • K. Mutoh
  • Z. Kizaki
  • A. Inui
Original Article

Summary

Citrin is the liver-type aspartate-glutamate carrier that resides within the inner mitochondrial membrane. Citrin deficiency (due to homozygous or compound heterozygous mutations in the gene SLC25A13) causes both adult-onset type II citrullinaemia (CTLN2) and neonatal intrahepatic cholestasis (NICCD). Clinically, CTLN2 is characterized by hyperammonaemia and citrullinaemia, whereas NICCD has a much more varied and transient presentation that can include multiple aminoacidaemias, hypoproteinaemia, galactosaemia, hypoglycaemia, and jaundice. Personal histories from CTLN2 patients have repeatedly described an aversion to carbohydrate-rich foods, and clinical observations of dietary and therapeutic outcomes have suggested that their unusual food preferences may be directly related to their pathophysiology. In the present study, we monitored the food intake of 18 Japanese citrin-deficient subjects whose ages ranged from 1 to 33 years, comparing them against published values for the general Japanese population. Our survey confirmed a marked decrease in carbohydrate intake, which accounts for a smaller proportion of carbohydrates contributing to the total energy intake (PFC ratio) as well as a shift towards a lower centile distribution for carbohydrate intake relative to age- and sex-matched controls. These results strongly support an avoidance of carbohydrate-rich foods by citrin-deficient patients that may lead to worsening of symptoms.

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Copyright information

© Springer Science+Business Media B.V. 2008

Authors and Affiliations

  • T. Saheki
    • 1
    • 9
  • K. Kobayashi
    • 1
  • M. Terashi
    • 1
  • T. Ohura
    • 2
  • Y. Yanagawa
    • 3
  • Y. Okano
    • 4
  • T. Hattori
    • 5
  • H. Fujimoto
    • 5
  • K. Mutoh
    • 6
  • Z. Kizaki
    • 7
  • A. Inui
    • 8
  1. 1.Department of Molecular Metabolism and Biochemical GeneticsKagoshima University Graduate School of Medical and Dental SciencesKagoshimaJapan
  2. 2.Department of PediatricsTohoku University School of MedicineSendaiJapan
  3. 3.Nutrition Management RoomTohoku University HospitalSendaiJapan
  4. 4.Department of PediatricsOsaka City University Graduate School of MedicineOsakaJapan
  5. 5.Osaka City University HospitalOsakaJapan
  6. 6.Department of PediatricsShimada Municipal HospitalShimadaJapan
  7. 7.Department of PediatricsKyoto First Red-Cross HospitalKyotoJapan
  8. 8.Division of Hepatology & Gastroenterology Children’s Center for Health & DevelopmentYokohama Tobu HospitalYokohamaJapan
  9. 9.Institute for Health SciencesTokushima Bunri UniversityTokushimaJapan

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