Galactosaemia: results of the British Paediatric Surveillance Unit Study, 1988-90.
Open Access
- 1 September 1993
- journal article
- research article
- Published by BMJ in Archives of Disease in Childhood
- Vol. 69 (3) , 339-341
- https://doi.org/10.1136/adc.69.3.339
Abstract
Ascertainment of cases of classical galactosaemia over a three year period in the UK and the Republic of Ireland, through the British Paediatric Surveillance Unit, identified 58 proved cases and two in whom the diagnosis was strongly suspected. One patient died at 4 days, and severe morbidity was no more frequent in babies diagnosed clinically because of their symptoms compared with those who were screened for galactosaemia. Treatment of four babies in the non-screened group was delayed until after 5 weeks of age, but it is concluded that all cases of galactosaemia could be diagnosed in an acceptable time without screening, providing clinical vigilance is maintained.Keywords
This publication has 6 references indexed in Scilit:
- Long‐term prognosis in galactosaemia: Results of a survey of 350 casesJournal of Inherited Metabolic Disease, 1989
- Neonatal screening and an intensive management programme for galactosaemia: early evidence of benefitsThe Medical Journal of Australia, 1988
- Galactosaemia detection as a bonus from screening for phenylketonuriaJournal of Inherited Metabolic Disease, 1982
- Clinical aspects of galactosaemiaPublished by Springer Nature ,1980
- Diagnosis of classical galactosaemia.Archives of Disease in Childhood, 1977
- A SIMPLE SPOT SCREENING TEST FOR GALACTOSEMIA1966