Other disorders of fatty-acid oxidation Save

Other Disorders of Fatty-Acid Oxidation

Fatty-acid oxidation disorders (FAODs) encompass a group of rare genetic disorders that affect the body's ability to break down fatty acids for energy. While some of the well-known FAODs include medium-chain acyl-CoA dehydrogenase (MCAD) deficiency and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency, there are other lesser-known disorders in this category as well. In this article, we will explore some of these other disorders of fatty-acid oxidation.

1. Short-Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency:

SCAD deficiency is a rare disorder that affects the body's ability to process certain fats. It is caused by mutations in the ACADS gene, which results in the impaired function of an enzyme called short-chain acyl-CoA dehydrogenase. Individuals with SCAD deficiency may experience symptoms such as developmental delays, muscle weakness, and low blood sugar.

2. Long-Chain Acyl-CoA Dehydrogenase (LCAD) Deficiency:

LCAD deficiency is another rare FAOD that is caused by mutations in the ACADL gene. This disorder impairs the function of the enzyme long-chain acyl-CoA dehydrogenase, leading to the inability to break down long-chain fatty acids. Symptoms of LCAD deficiency may include muscle weakness, low blood sugar, and liver problems.

3. Very-Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency:

VLCAD deficiency is a severe FAOD caused by mutations in the ACADVL gene. This disorder affects the enzyme very-long-chain acyl-CoA dehydrogenase, resulting in the inability to break down very-long-chain fatty acids. Individuals with VLCAD deficiency may experience symptoms such as muscle weakness, liver problems, and an increased risk of heart complications.

4. Multiple Acyl-CoA Dehydrogenase (MADD) Deficiency:

MADD deficiency, also known as glutaric acidemia type 2, is a complex FAOD caused by mutations in several genes, including the ETFA, ETFB, and ETFDH genes. This disorder affects the function of multiple acyl-CoA dehydrogenase enzymes, leading to the buildup of toxic substances in the body. Symptoms of MADD deficiency can vary widely and may include muscle weakness, developmental delays, and organ dysfunction.

These are just a few examples of the other disorders that fall under the category of fatty-acid oxidation disorders. While these conditions are rare, it is important to raise awareness and understanding about them to