tion of fat and fat soluble vitamins. A 4 year old boy with this condition has been success- fully treated by oral administration of a bile acid-chenodeoxycholic acid ...
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Archives ofDisease in Childhood 1990; 65: 1121-1124
Treatment of chronic liver disease caused by 3 f-hydroxy-A 5 -C27-steroid dehydrogenase deficiency with chenodeoxycholic acid H Ichimiya, H Nazer, T Gunasekaran, P Clayton,
Abstract Deficiency of 3,B-hydroxy-A5-C27-steroid dehydrogenase, the second enzyme in the sequence that catalyses the synthesis of bile acids from cholesterol, leads to chronic liver disease in childhood as well as to malabsorption of fat and fat soluble vitamins. A 4 year old boy with this condition has been successof Department fully treated by oral administration of a bile Physiological Chemistry, Karolinska Institute, acid-chenodeoxycholic acid. He had been Stockholm, jaundiced since birth, grew poorly because of Sweden rickets, and had severe pruritus. Plasma H Ichimiya transaminase activities were persistently J Sjovall raised. Chenodeoxycholic acid 125 mg twice Department of Paediatrics, daily for two months, and then 125 mg daily, King Faisal Specialist cured his jaundice and pruritus, returned his Hospital and transaminase activities to normal, and eliminResearch Centre, Riyadh, ated the need for calcitriol for prevention of Saudi Arabia rickets. On this treatment he has so far reH Nazer mained well for two years. A diagnosis of 3,T Gunasekaran hydroxy-A5-C27-steroid dehydrogenase defiDepartment of ciency should be considered in any child with Child Health, Institute of Child Health, unexplained chronic hepatitis or cirrhosis, 30 Guilford Street, especially if the liver disease is accompanied London WC1N 1EH by a clinically obvious malabsorption of fat P Clayton soluble vitamins. A simple colorimetric test of Correspondence to: Dr Clayton. the urine confirms the diagnosis and effective Accepted 19 May 1990 treatment can be started.
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