Past studies
Find information about previous studies with BPSU over its history. This includes the key findings, as well as any publications associated with the study. These display in order of the study's start date, and you can use the filter to find by category or start date.
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Medium chain Acyl-CoA Dehydrogenase 2
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) was a recessively inherited metabolic disorder that may cause hypoglycaemia, encephalopathy, hepatic dysfunction and sudden death. Although studies of MCADD screening in other countries existed, important questions were unanswered. Additionally, uncertainty remained over the clinical outcome following detection through newborn screening. This study aimed to ascertain all cases of MCADD diagnosed during the study period to determine the clinical outcome to 2 years of age. This was to inform the national screening policy. It also aimed to determine the detection rate of screening for MCADD in a UK setting.
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Medium chain acyl-CoA dehydrogenase 1
This study aimed to identify all patients in the United Kingdom diagnosed during the period of the study and to provide data to inform decisions about whether to include Medium chain acyl-CoA dehydrogenase in a neonatal screening programme. It was hoped that by increasing general awareness of the disorder, the management of individual patients and their families would benefit.
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Galactosaemia
Ascertainment of cases of classical galactosaemia over a three year period in the UK and the Republic of Ireland.
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