Classical galactosaemia in Chinese: A case report and review of disease incidence

We report a case of galactose-1-phosphate uridyl transferase (GALT) deficie ncy in a full-term Chinese neonate, who presented with atypical biochemical features of hyperammonaemia in addition to the classical presenting featur es of jaundice and lethargy after feeding. Red cell GALT activity was virtu ally absent in the patient while 50% of normal activity was found in parent s and a sibling. Mutation screening excluded both Q188R and N314D as the ca usative mutation in GALT gene, which suggested a possible genetic segregati on among ethnic groups. Data from a Taiwan screening program suggested that the incidence of the disease was approximately 1 in 400 000 in the Chinese population which was a sixth of that in Caucasian populations.