LCHAD Information

What is LCHAD

Long Chain 3 Hydroxyacl-Coa Dehydrogenase Deficiency is a disorder known as a Fatty Oxidation disorder, people with this disorder have difficulty breaking down certain fat, to convert into energy in their body.

What causes LCHAD

A person is affected with the disorder when they are missing or lacking full function of a certain enzyme, that enzyme is called Long Chain 3 Hydroxyacl-Coa. The enzymes job is to convert certain fats in our food and body and convert them into energy.

The types of LCHAD and symptoms: There are 3 types of LCHAD

  • Early LCHAD- Showing signs from birth to a few months old
  • Childhood LCHAD – Showing signs late infancy and into early childhood
  • Adult LCHAD- Showing signs into teenage years through to adulthood.

LCHAD deficiency typically appears in the above stages of life and can include feeding difficulties, lack of energy (lethargy), low blood sugar (hypoglycaemia), weak muscle tone (hypotonia), liver problems and abnormalities in the light-sensitive tissue at the back of the eye (retina). Later in childhood, people with this condition may experience muscle pain, breakdown of muscle tissue and a loss of sensation to their arms and legs (peripheral neuropathy). Individuals with LCHAD deficiency are also at risk for serious heart problems, breathing difficulties, coma and sudden death.

Problems related to LCHAD deficiency can be triggered by periods of fasting or by illnesses such as viral infections , this disorder is sometimes mistaken for Reye Syndrome a severe disorder that may develop in children while they appear to be recovering from viral infections such as Chicken Pox or Flu. Most cases of Reye Syndrome are associated with the use of Aspirin during during these viral infections.