An inborn error of bile acid synthesis (3β-hydroxy-Δ5-C27-steroid dehydrogenase deficiency) presenting as malabsorption leading to rickets. Issue 5 (1st May 1999)

• Record Type: Journal Article
• Authors: Akobeng, Anthony K; Clayton, Peter T; Miller, Victor; Super, Maurice; Thomas, Adrian G
• Is Part Of: Archives of disease in childhood. Volume 80:Issue 5(1999)
• Page Start: 463
• Page End: 465
• Publication Date: 1999-05-01
• Subjects: inborn error of bile acid synthesis -- rickets -- liver disease -- cholestatic jaundice -- fat soluble vitamins; Children -- Diseases -- Periodicals; Infants -- Diseases -- Periodicals; 618.920005
• DOI: 10.1136/adc.80.5.463
• Languages: English
• ISSNs: 0003-9888

Abstract

Abstract : Deficiency of 3β-hydroxy-Δ 5 -C27 -steroid dehydrogenase (3β-HSDH), the enzyme that catalyses the second reaction in the principal pathway for the synthesis of bile acids, has been reported to present with prolonged neonatal jaundice with the biopsy features of neonatal hepatitis. It has also been shown to present between the ages of 4 and 46 months with jaundice, hepatosplenomegaly, and steatorrhoea (a clinical picture resembling progressive familial intrahepatic cholestasis). This paper reports two children with 3β-HSDH deficiency who developed rickets during infancy and did not develop clinically evident liver disease until the age of 3 years. Bile acid replacement resulted in considerable clinical and biochemical improvement. The importance of thorough investigation of fat soluble vitamin deficiencies in infancy is emphasised.