6 faod 1

Genetic conditions caused by mutations in genes that code for enzymes responsible for oxidation of fatty acids,

When there is an alteration in these genes, enzyme levels go down and fatty acids build up in the blood

In the case of fatty acid oxidation disorders, the inability to break down fats for energy and the build up of fatty acids cause serious health problems.

DIAGNOSIS: Babies can be tested (newborn screening) for fatty acid oxidation disorders before they leave the hospital. The baby’s heel is pricked and a few drops of blood are taken. The blood is analysed to find out if it has more than a normal amount of fatty acids.

There are various types of fatty acid oxidation disorders. The following is a list of fatty acid oxidation disorders that can be screened for:

Carnitine/Acylcarnitine translocase deficiency (TRANS)

Carnitine transporter deficiency

Long/Very Long Chain Acyl CoA dehydrogenase deficiency (LCAD/VLCAD)

Medium Chain Acyl CoA dehydrogenase deficiency (MCAD)

Short Chain Acyl CoA dehydrogenase deficiency (SCAD)

Short Chain 3-Hydroxyacyl CoA dehydrogenase deficiency (SCAD)

Long-chain 3-Hydroxyacyl CoA dehydrogenase deficiency (LCHAD)

Carnitine Transported Deficiency (CTD)

Although most of fatty acid oxidation disorders affect the heart, skeletal muscle and liver, cardiac failure is seen as the major presentation in CTD.

Over half of all known cases of CTD first present with progressive heart failure and generalized muscle weakness.

During the first year of life, extended fasting stress may provoke an attack of hypoketotic hypoglycemia and coma. This may lead to sudden unexpected infant death.

Management: The outcome is usually very good with carnitine therapy. Without which, the cardiac failure can progress rapidly to death.