Genetic condition awaiting consideration - Carnitine Acylcarnitine Translocase Deficiency (CACT)
CACT deficiency is a rare genetic condition which causes problems with the way that the body uses some fats to produce energy. This is more of a problem during fasting (e.g. during illness) when our bodies switch from using carbohydrates to fats as the main energy source. Fatty acid metabolism is particularly important in heart and skeletal muscles (during exercise) and in other tissues during fasting. The gene involved in this disorder is called SLC25A20, and it is the instruction which tells our bodies how to make an enzyme called Carnitine Acylcarnitine Tanslocase. This enzyme is essential in the process where ‘fatty acids’ are metabolized and used for energy.
Alterations or mutations in this gene mean that the enzyme is not produced correctly and so the fatty acids cannot be transported around the cell to locations where it is broken-down. This leads to a build-up of the fatty acids and other chemicals in cells, and also a rapid drop in blood sugars. This imbalance condition/disorder in body chemicals means that babies usually develop symptoms very early in the new-born period.
Symptoms can include: breathing problems heart rhythm abnormalities and weakened heart muscle enlarged liver and liver damage to the brain leading to delayed development and seizures. The condition usually causes a progressive deterioration and many babies will die in the new-born period. A small number of children with a milder form of the condition (who have more enzyme activity) may not develop symptoms until early childhood. Complications that affect these children can include liver problems (with a risk of liver failure), muscle weakness and delayed development, coma and a risk of sudden death. A couple who have had a previously affected child have a 1 in 4 risk of recurrence in each pregnancy.
Have your say on conditions awaiting consideration
If you have any feedback on the genetic conditions awaiting consideration by the HFEA, send us an email and we will discuss your comments at the next Licence Committee.
Email your feedback to: pgd@hfea.gov.uk
You can also sign up to our PGD update email alert service which will keep you up to date, on a monthly basis, with information on the latest conditions added to the authorised list and conditions that are awaiting approval about which you can provide comments.
Page last updated: 21 January 2013