Thesis (Ph.D.) - Cairo University - Faculty of Medicine - Department of Pediatrics

Citrin deficiency is known to be a rare disease mainly in south east Asia. We aimed to study its prevalence in Egyptian children with cholestasis using Tandem Mass Spectrometry (TMS). The study included 161 cholestatic patients below the age of one year; 5 of them were found to have high level of citrulline. All 5 presented between ages of 23 to 90 days; they were 3 males and two females and only one of them was below third percentile for weight and height. All of them had cholestasis and elevated liver enzymes at the time of presentation; 4 had hepatomegaly and one had splenomegaly. Cholestasis resolved in all cases; one proved to be galactosemia. The patient with longest follow up had hyperammoniemia at presentation. Later he became jaundice free with, improvement in liver functions and hyperammonemia; but with motor and mental delay with aversion from sugars in his diet. He has no organomegaly and a recent liver biopsy showed micro-nodular cirrhosis. His clinical picture fits with the diagnosis of citrin deficiency. The study recommends the use of TMS for all cholestatic patients and the use of molecular genetic testing for confirmation of citrin deficiency

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