LCHAD deficiency



LCHAD deficiency is autosomal recessive hereditary disorder (OMIM 609016). LCHAD is a long-chain 3-hydroxyacyl-CoA dehydrogenase of the long-chain fatty acids. This enzyme is responsible for transformation of the fats into the substitutive sources of energy for the human body.

Clinical signs
LCHAD deficiency can endanger the patient mainly during the starvation, increased energy consumption or physical activity. In this case the patient is not able to obtain energy from the fats of his own body. LCHAD symptoms commonly manifest during the early childhood. These signs are for example faintness, hypoglycemia (low level of sugar in blood), hypotonia (reduced muscle tone) and problems with liver. In the latest stadium of the childhood patients can have muscle pains, muscle tissue disorders, loss of the sensitivity in limbs, myocardial infarction or problems with breathing.

Diagnostics
LCHAD deficiency is diagnosed with help of the neonatal screening. The important thing is long-chain hydroxyacylcarnitine level: increased values most likely show that the patient has LCHAD deficiency.

Treatment

 * Increased amounts of sugars in food.
 * Reduced amounts of fats.
 * Usage of MCT fats, which means medium chain triglycerides. Here belong for example breast milk, coconut milk, cow and sheep milk.
 * In the early childhood apply the diet every 4 hours.

Cause of the LCHAD deficiency
LCHAD deficiency is caused by mutation of the HADHA gene. This gene arranges instructions for creation of the part of the enzyme complex which is called mitochondrial trifunctional protein. This protein contains 3 enzymes, each of them has different functions. Common task of all these enzymes is dissociation of the long-chain fats. Mutations in HADHA gene cause the disfunction of one of these three enzymes. As a result fatty acids cannot be transformed into energy, besides their increased amounts in body can cause life-threatening conditions.