PT  - JOURNAL ARTICLE
AU  - Anthony K Akobeng
AU  - Peter T Clayton
AU  - Victor Miller
AU  - Maurice Super
AU  - Adrian G Thomas
TI  - An inborn error of bile acid synthesis (3β-hydroxy-Δ<sup>5</sup>-C<sub>27</sub>-steroid dehydrogenase deficiency) presenting as malabsorption leading to rickets
AID  - 10.1136/adc.80.5.463
DP  - 1999 May 01
TA  - Archives of Disease in Childhood
PG  - 463--465
VI  - 80
IP  - 5
4099  - http://adc.bmj.com/content/80/5/463.short
4100  - http://adc.bmj.com/content/80/5/463.full
SO  - Arch Dis Child1999 May 01; 80
AB  - Deficiency of 3β-hydroxy-Δ5-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.