Galactosaemia: case for neonatal screening illustrated by recent Australian experience
Masters, P.; Langton, S.; Robertson, E.; Hill, G.
Medical Journal of Australia 2(8): 348-352
1978
ISSN/ISBN: 0025-729X PMID: 732709 Document Number: 134393
The varied presentation and clinical features of classical galactosaemia are illustrated by the case histories of 7 infants born in Western Australia since January 1962 and of 2 born in South Australia in whom diagnosis was made as a result of adding galactosaemia to the Guthrie screening programme in October 1974. All had severe deficiency of galactose-1-phosphate uridylyltransferase in red blood cells. Findings are compared with those in 10 galactosaemic infants born in Victoria during a similar period and show that in both groups there were two main modes of onset: acute and insidious. Jaundice and Escherichia coli infection were prominent in the 13 with an acute onset, while poor weight gain, intermittent vomiting and cataracts were features of the 5 with an insidious onset. An enlarged liver was usually found in both groups.