Premium
3 β ‐hydroxy‐Δ 5 ‐C 27 ‐steroid dehydrogenase deficiency; effect of chenodeoxycholic acid therapy on liver histology
Author(s) -
Horslen S. P.,
Lawson A. M.,
Malone M.,
Clayton P. T.
Publication year - 1992
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01800342
Subject(s) - chenodeoxycholic acid , bile acid , malabsorption , medicine , bile acid malabsorption , liver biopsy , gastroenterology , jaundice , cirrhosis , endocrinology , liver disease , biopsy
Summary The second step in the pathway for synthesis of bile acids from cholesterol is catalysed by the enzyme 3 β ‐hydroxy‐Δ 5 ‐C 27 ‐steroid dehydrogenase. Deficiency of this enzyme has been reported to produce cholestatic liver disease with progressive cirrhosis. Treatment with chenodeoxycholic acid led to clinical and biochemical improvement in one patient. We report a further child with this disorder who presented with prolonged neonatal jaundice followed by symptoms of malabsorption of fat‐soluble vitamins. Bile acid replacement therapy resulted in clinical and biochemical improvement; it was also possible to demonstrate improvement in the histological appearance of the liver biopsy 4 months after commencing treatment.