Urinary reducing substances in neonatal intrahepatic cholestasis caused by citrin deficiency

Ajmal Kader, Christina Ong, Veena Logarajah, Kong Boo Phua, Ee Shien Tan


Neonatal cholestasis due to citrin deficiency is an autosomal recessive metabolic disorder caused by mutations in SLC25A13 gene. Mutations in this gene have a relatively high prevalence in East-Asian races compared to European or Afro-Caribbean races. Mutations in both sets of chromosomes often lead to self-limiting early onset cholestasis and growth retardation referred as neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). It is associated with a wide range of metabolic derangements including galactosemia and aminoacidemia, which can be detected on the newborn blood spot screening. Galactose, being a reducing sugar, can also be detected using Clinitest® (Clinitest® Reagent Tablets, Bayer Corporation, Diagnostics Division, Elkhart, IN, USA), a common screening test used in the work up of metabolic and hepatic diseases. In the western population classical galactosemia is often suspected when non glucose reducing substances are detected in the urine of infants with cholestasis. However in East-Asian races the prevalence of classical galactosemia is very low whilst galactosemia due to altered uridine diphosphate-galactose epimerase activity in NICCD is more common. We present a case of NICCD in an East-Asian infant with cholestasis and persistently positive urine reducing substance.

Conclusion: NICCD deficiency should be considered as a differential diagnosis in any infant with cholestasis and persistently positive urinary reducing substances.


citrin deficiency; intrahepatic cholestasis; NICCD; urine reducing substance; galactosemia; fatty liver

Full Text: PDF Number of abstract views: 4648 Number of PDF views/downloads: 11244


N.B. All JPNIM articles are accessible in Open Access. You can access the page containing the full PDF article just by clicking on the “Full Text: PDF” link at the bottom of the abstract page. On the full article page, if the article doesn’t load properly in the PDF view window, please wait a few seconds or click on the “Download this PDF file” link.

Technical advice. If you are using Firefox and you are experiencing problems, please set the browser preferences as follows: Firefox > Preferences > Advanced > General > Accessibility > deselect "Warn me when web sites try to redirect or reload the page".

Privacy Policy. English text: Privacy Policy; Italian text: Privacy Policy.

Cookie Policy. English text: Cookie Policy; Italian text: Cookie Policy.