The Expanded Newborn Screening project has now ended and these pages are not being actively maintained. LCHADD screening is not routinely available in England, though siblings of affected children will be tested, as will children presenting with symptoms of LCHADD. From 1 September 2014 these resources are provided for information only.
What does LCHADD stand for?
LCHADD stands for Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency pronounced Long chain 3 – hi-droxi-a-sile-Co- A- De hi-drodge-e-naise deficiency .
What is LCHADD?
LCHADD is a rare disorder where the baby or child is unable to breakdown fats due to a missing enzyme.
What are the effects of having LCHADD?
LCHADD can cause long term problems with the heart, eyes, muscles and nerves. Children with LCHADD will have regular appointments to monitor these potential problems.
Having LCHADD can also cause problems often when the child is also suffering from another illness such as a chest infection or stomach bug. In these instances the child may develop symptoms which include:
If a child with LCHADD has these symptoms, hospital treatment should be sought immediately.
How is LCHADD treated?
LCHADD is treated with very special low fat diet. During illnesses, the children need sugary drinks every 2-3 hours day and night (the Emergency Regimen) and they may need hospital admission.