Dr Beth Cheesebrough
Stoke Mandeville Hospital
Aylesbury HP21 8AL
About the study
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.
You can download the protocol card, including references, below.
Any child under the age of 16 years with a confirmed or suspected diagnosis of GA 1 should be reported on the BPSU orange card.
The child will be considered to have a proven diagnosis of GA 1 if at least one of the following criteria is met:
- Two known pathogenic mutations on mutation analysis
- Reduced or absent glutaryl-CoA dehydrogenase activity in cultured fibroblasts or leukocytes
The child will be considered to have suspected GA 1 if at least one of the following criteria is met:
- Isolated elevation of glutarylcarnitine on blood spot analysis
- Elevated urinary excretion of glutaric acid and/or 3-hydroxyglutaric acid.
Please report any child seen for the first time in the UK or the Republic of Ireland during the study period who satisfies the case definition regardless of country of birth.
July 2010 – July 2012 inclusive.
This study is funded through the Sir Peter Tizard Bursary.
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.