Classical
galactosemia is an autosomal recessive disorder caused by a deficiency of the
enzyme galactose-1-phosphate uridyltransferase. Undoubtedly, some of the short term complications are linked to the toxic effects of the accumulated abnormal metabolites (galactose-1-phosphate and galactitol). However, the physiopathology of neonatal
liver failure remains unclear. We report the case of a 7-week-old girl who was first diagnosed with
liver failure, hypoprotidaemia,
ascites and generalized edemas. High
citrulline (293 micromol/L), on initial plasma
amino acid, suggested the diagnosis of
citrin deficiency. As the citric acid cycle intermediates were non-detectable (oxoglutarate,
succinate and
citrate), a cataplerotic state was suspected. As a result,
citrate (as an anaplerotic treatment) induced a clear improvement in her liver function. Four weeks later, this patient was switched to a
galactose-free formula (as recommended in
citrin deficiency with
galactosemia) and her pathological status returned to normal.
Citrin deficiency was later ruled out by molecular biology studies; then we reintroduced a
galactose-containing formula which re-evoked rapidly
vomiting,
galactose aversion and hepatic cytolysis and the diagnosis of classical
galactosemia was established. Our case clearly shows that cataplerosis could play a role in the pathophysiology of the neonatal
liver disease observed in classical
galactosemia.