A Case of Galactosaemia with an Atypical Presentation Case History and Biochemical Investigations

3 Months – At the Local DGH In a routine check-up it was noted that she had poor weight gain (body weight at this point was 4.3 Kg) and her growth had fallen to the 0.4 centile of the growth chart. She was immediately seen by the local paediatrician. On examination she had mild motor delay and hepatomegaly but was otherwise normal. Mother reported no difficulty in feeding. The preliminary laboratory investigations were as follows: