BPSU - Glutaryl CoADehydrogenase Deficiency (GA1)
Surveillance of glutaric aciduria 1 concluded its surveillance period in July 2012. The study is being led by Dr Beth Cheesebrough, winner of the Sir Peter Tizard Bursary 2007-08.
Dr Beth Cheesebrough
Email: Dr Beth Cheesebrough
- Glutaric Aciduria 1 (GA 1), also known as Glutaric Acidaemia 1 and Glutaryl CoADehydrogenase Deficiency is a rare autosomal recessive inborn error of metabolism caused by deficient activity of the enzyme glutaryl-CoA dehydrogenase.
- It presents with acute encephalopathy in young children, usually under the age of two years.
- Some individuals have presented with subdural and retinal haemorrhages without a history of trauma and case reports have highlighted the similarity of these findings to those seen in non-accidental injury.
- We aim to estimate the incidence of GA 1 in children in the UK and Ireland and describe its distribution by age and ethnic group as well as look at symptoms and signs at presentation including the presence or absence of subdural and retinal haemorrhage.
- A follow up questionnaire will be sent at one year to explore short term morbidity and mortality of these children after diagnosis.
Duration: July 2010 – July 2012 inclusive
Funding: Sir Peter Tizard Bursary
Ethical approval: This study has been approved by the Institute of Child Health/Great Ormond Street Hospital Research Ethics Committee Ref 10/H0713/10 and by the NIGB Ethics and Confidentiality Committee Ref: 38998/86476/4/1000.