Journal of Inherited Metabolic Disease

, Volume 33, Issue 4, pp 437–443

Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children

  • Dau-Ming Niu
  • Kah-Wai Chong
  • Ju-Hui Hsu
  • Tina Jui-Ting Wu
  • Hsiao-Chi Yu
  • Cheng-Hung Huang
  • Ming-Yu Lo
  • Ching Fai Kwok
  • Lisa E. Kratz
  • Low-Tone Ho
Original Article

DOI: 10.1007/s10545-010-9126-2

Cite this article as:
Niu, D., Chong, K., Hsu, J. et al. J Inherit Metab Dis (2010) 33: 437. doi:10.1007/s10545-010-9126-2

Abstract

The clinical observation and treatment of young children with sitosterolemia has rarely been reported. We report clinical, biochemical, and molecular genetic observations and treatment outcomes for five Chinese children from four separate families presenting with sitosterolemia in whom we identified two new (Y329X, G269R) and three known (R446X, N437K, R389H) mutations in the ABCG5 gene. The R389H mutation was found in 50% of alleles. Three of these five patients received cholestyramine therapy with a very good response. However, all patients discontinued this therapy because of poor compliance. Finally, all patients were on ezetimibe therapy and had satisfactory total serum cholesterol levels, though their plant sterol levels were still higher than normal. Another noteworthy finding is that a female infant had a serum cholesterol level of 654 mg/dl at 7 months of age, despite being breast fed (with very tiny amounts of plant sterols) since birth and undergoing 4 months of ezetimibe administration. Although she failed to respond to ezetimibe during this period, she did show improvement when the therapy was started again at 2 years of age. It is possible that another 23-month-old female patient also responded more slowly to ezetimibe treatment than older patients.

Copyright information

© SSIEM and Springer 2010

Authors and Affiliations

  • Dau-Ming Niu
    • 1
    • 2
  • Kah-Wai Chong
    • 1
  • Ju-Hui Hsu
    • 2
  • Tina Jui-Ting Wu
    • 2
  • Hsiao-Chi Yu
    • 2
  • Cheng-Hung Huang
    • 2
  • Ming-Yu Lo
    • 2
  • Ching Fai Kwok
    • 3
  • Lisa E. Kratz
    • 4
  • Low-Tone Ho
    • 5
  1. 1.Institute of Clinical Medicine, School of MedicineNational Yang-Ming UniversityTaipeiRepublic of China
  2. 2.Department of PediatricsTaipei Veterans General HospitalTaipeiRepublic of China
  3. 3.Department of MedicineTaipei Veterans General HospitalTaipeiRepublic of China
  4. 4.Kennedy Krieger InstituteBaltimoreUSA
  5. 5.Department of Medical Research and EducationTaipei Veterans General HospitalTaipeiRepublic of China