Neonatal cholestatic liver disease in an Asian patient with a homozygous mutation in the oxysterol 7α-hydroxylase gene
I Ueki, A Kimura, A Nishiyori, HL Chen… - Journal of pediatric …, 2008 - journals.lww.com
I Ueki, A Kimura, A Nishiyori, HL Chen, H Takei, H Nittono, T Kurosawa
Journal of pediatric gastroenterology and nutrition, 2008•journals.lww.comWe diagnosed a Taiwanese infant with oxysterol 7a-hydroxylase deficiency resulting from a
homozygous mutation in the corresponding gene. We know of only 1 report of this inborn
error of bile acid synthesis, by Setchell et al (1). The clinical and laboratory findings in our
patient resembled those in patients with other inborn errors of bile acid synthesis. However,
this rare form is difficult to treat with bile acid therapy because of its rapid progression to
cirrhosis at an early stage. We present the clinical features, diagnostic evaluation, and …
homozygous mutation in the corresponding gene. We know of only 1 report of this inborn
error of bile acid synthesis, by Setchell et al (1). The clinical and laboratory findings in our
patient resembled those in patients with other inborn errors of bile acid synthesis. However,
this rare form is difficult to treat with bile acid therapy because of its rapid progression to
cirrhosis at an early stage. We present the clinical features, diagnostic evaluation, and …
We diagnosed a Taiwanese infant with oxysterol 7a-hydroxylase deficiency resulting from a homozygous mutation in the corresponding gene. We know of only 1 report of this inborn error of bile acid synthesis, by Setchell et al (1). The clinical and laboratory findings in our patient resembled those in patients with other inborn errors of bile acid synthesis. However, this rare form is difficult to treat with bile acid therapy because of its rapid progression to cirrhosis at an early stage. We present the clinical features, diagnostic evaluation, and treatment of our patient.
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