J Korean Med Sci.  2018 Dec;33(51):e324. 10.3346/jkms.2018.33.e324.

Complete Recovery of Oxysterol 7α-Hydroxylase Deficiency by Living Donor Transplantation in a 4-Month-Old Infant: the First Korean Case Report and Literature Review

  • 1Department of Pediatrics, Kangwon National University School of Medicine, Chuncheon, Korea.
  • 2Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea. kmkim@amc.seoul.kr
  • 3Junshin Clinic Bile Acid Institute, Tokyo, Japan.
  • 4Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Japan.


Oxysterol 7α-hydroxylase deficiency is a very rare liver disease categorized as inborn errors of bile acid synthesis, caused by CYP7B1 mutations. As it may cause rapid progression to end-stage liver disease even in early infancy, a high index of suspicion is required to prevent fatal outcomes. We describe the case of a 3-month-old boy with progressive cholestatic hepatitis and severe hepatic fibrosis. After excluding other etiologies for his early liver failure, we found that he had profuse urinary excretion of 3β-monohydroxy-Δ5-bile acid derivatives by gas chromatography/mass spectrometry analysis with dried urine spots on filter paper. He was confirmed to have a compound heterozygous mutation (p.Arg388Ter and p.Tyr469IlefsX5) of the CYP7B1 gene. After undergoing liver transplantation (LT) from his mother at 4 months of age, his deteriorated liver function completely normalized, and he had normal growth and development until the current follow-up at 33 months of age. We report the first Korean case of oxysterol 7α-hydroxylase deficiency in the youngest infant reported to undergo successful living donor LT to date.


Bile Acids and Salts; Bile Acid Synthesis Defects; Oxysterol 7-alpha-hydroxylase; Liver Transplantation

MeSH Terms

Bile Acids and Salts
Fatal Outcome
Follow-Up Studies
Growth and Development
Liver Diseases
Liver Failure
Liver Transplantation
Living Donors*
Spectrum Analysis
Bile Acids and Salts
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