Journal of Inherited Metabolic Disease

, Volume 30, Issue 2, pp 139–144

Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)

  • T. Ohura
  • K. Kobayashi
  • Y. Tazawa
  • D. Abukawa
  • O. Sakamoto
  • S. Tsuchiya
  • T. Saheki
ICIEM 2006

DOI: 10.1007/s10545-007-0506-1

Cite this article as:
Ohura, T., Kobayashi, K., Tazawa, Y. et al. J Inherit Metab Dis (2007) 30: 139. doi:10.1007/s10545-007-0506-1

Summary

We clarified the clinical features of NICCD (neonatal intrahepatic cholestasis caused by citrin deficiency) by retrospective review of symptoms, management and long-term outcome of 75 patients. The data were generated from questionnaires to paediatricians in charge of the patients. Thirty of the patients were referred to hospitals before 1 month of age because of positive results in newborn screening (hypergalactosaemia, hypermethioninaemia, and hyperphenylalaninaemia). The other 45, the screen-negative patients, were referred to hospitals with suspected neonatal hepatitis or biliary atresia because of jaundice or discoloured stool. Most of the screen-negative patients presented before 4 months of age, and 11 had failure to thrive. Laboratory data showed elevated serum bile acid concentrations, hypoproteinaemia, low levels of vitamin K-dependent coagulation factors and hypergalactosaemia. Hypoglycaemia was detected in 18 patients. Serum amino acid analyses showed significant elevation of citrulline and methionine concentrations. Most of the patients were given a lactose-free and/or medium-chain triglyceride-enriched formula and fat-soluble vitamins. Symptoms resolved in all but two of the patients by 12 months of age. The two patients with unresolved symptoms suffered from progressive liver failure and underwent liver transplantation before their first birthday. Another patient developed citrullinaemia type II (CTLN2) at age 16 years. It is important to recognize that NICCD is not always a benign condition.

Abbreviations

CTLN2

citrullinaemia type 2

NICCD

neonatal intrahepatic cholestasis caused by citrin deficiency

Copyright information

© SSIEM and Springer 2007

Authors and Affiliations

  • T. Ohura
    • 1
  • K. Kobayashi
    • 2
  • Y. Tazawa
    • 1
  • D. Abukawa
    • 1
  • O. Sakamoto
    • 1
  • S. Tsuchiya
    • 1
  • T. Saheki
    • 2
  1. 1.Depatment of PaediatricsTohoku University School of MedicineSendaiJapan
  2. 2.Department of Molecular Metabolism and Biochemical GeneticsKagoshima University Graduate School of Medicine and Dental SciencesKagoshimaJapan