Journal of Inherited Metabolic Disease

, Volume 35, Issue 5, pp 777–785

Long-term outcome and intervention of urea cycle disorders in Japan

  • Jun Kido
  • Kimitoshi Nakamura
  • Hiroshi Mitsubuchi
  • Toshihiro Ohura
  • Masaki Takayanagi
  • Masafumi Matsuo
  • Makoto Yoshino
  • Yosuke Shigematsu
  • Tohru Yorifuji
  • Mureo Kasahara
  • Reiko Horikawa
  • Fumio Endo
Original Article

DOI: 10.1007/s10545-011-9427-0

Cite this article as:
Kido, J., Nakamura, K., Mitsubuchi, H. et al. J Inherit Metab Dis (2012) 35: 777. doi:10.1007/s10545-011-9427-0

Abstract

Urea cycle disorders (UCDs) are one of the most frequently inherited metabolic diseases in Japan, with an estimated prevalence of 1 per 50,000 live births. Here, we investigated the clinical manifestations, treatment, and prognosis of 177 patients with UCDs who were evaluated and treated from January 1999 to March 2009. These included 77 cases of neonatal-onset UCDs and 91 cases of late-onset UCDs. The most common UCD was ornithine transcarbamylase deficiency (OTCD), which accounted for 116 out of 177 patients. This result is similar to a previous study performed between 1978 and 1995 in Japan: OTCD accounted for about two-thirds of the total number of UCD cases. We studied the relationship between prognosis and the peak blood ammonia level at the onset in 151 UCD patients. Compared with a previous survey conducted in Japan, we found that a greater number of patients survived without any mental retardation despite their peak blood ammonia levels being greater than 360 μmol/l. The 5-year survival rate of patients with OTCD improved to 86% for those with the neonatal-onset type and to 92% for those with the late-onset type. We hypothesize that the increased survival rate is due to early diagnosis and better treatments that are now available in Japan. It is very important to diagnose and treat UCDs, especially OTCD, when the blood ammonia levels in patients are low. The outcome in patients with low blood ammonia levels was better than that in patients with high blood ammonia levels.

Supplementary material

10545_2011_9427_MOESM1_ESM.doc (53 kb)
ESM. 1(PDF 61 kb)

Copyright information

© SSIEM and Springer 2011

Authors and Affiliations

  • Jun Kido
    • 1
  • Kimitoshi Nakamura
    • 1
  • Hiroshi Mitsubuchi
    • 1
  • Toshihiro Ohura
    • 2
  • Masaki Takayanagi
    • 3
  • Masafumi Matsuo
    • 4
  • Makoto Yoshino
    • 5
  • Yosuke Shigematsu
    • 6
  • Tohru Yorifuji
    • 7
  • Mureo Kasahara
    • 8
  • Reiko Horikawa
    • 9
  • Fumio Endo
    • 1
  1. 1.Department of Pediatrics, Graduate School of Medical SciencesKumamoto UniversityKumamoto CityJapan
  2. 2.Division of PediatricsSendai City HospitalSendaiJapan
  3. 3.Division of Emergency and General MedicineChiba Children’s HospitalChibaJapan
  4. 4.Department of PediatricsKobe University Graduate School of MedicineKobeJapan
  5. 5.Department of Pediatrics and Child HealthKurume University School of MedicineKurumeJapan
  6. 6.School of Nursing, Faculty of Medical SciencesUniversity of FukuiFukuiJapan
  7. 7.Department of Pediatric Endocrinology and Metabolism, Children’s Medical CenterOsaka City General HospitalOsakaJapan
  8. 8.Department of Transplantation SurgeryNational Center for Child Health and DevelopmentTokyoJapan
  9. 9.Department of Endocrinology and MetabolismNational Center for Child Health and DevelopmentTokyoJapan

Personalised recommendations