Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, which is also known LCHADD, is a rare inherited inborn error of metabolism (IEM) of long-chain fatty acid metabolism. The estimated birth prevalence of LCHADD is 1 in 62 000 in Northern European individuals. The worldwide birth prevalence is estimated at 1 in 250 000. MCADD is an autosomal recessive disorder associated with a mutation in the enzyme known as hydroxyacyl-CoA dehydrogenase (HADHA). HADHA catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. HADHA converts medium- and long-chain 2-enoyl-CoA compounds into the corresponding 3-ketoacyl-CoA compounds when NAD is present, and acetyl-CoA when NAD and CoASH are present. Deficiencies in this enzyme prevent the body from converting certain fats to energy, particularly during periods without food (fasting). Signs and symptoms of LCHAD deficiency typically manifest during infancy or early childhood and can include feeding difficulties, hypoglycemia, hypotonia, lethargy, liver problems, and retinal abnormalities. During late childhood, people may experience muscle pain and peripheral neuropathy. LCHAD-deficiency individuals are also at risk for breathing difficulties, serious heart problems, coma, and sudden death. Fasting or illnesses (e.g. viral infections) can trigger related problems. LCHADD is associated with some pregnancy-specific disorders, including preeclampsia, HELLP syndrome (hemolysis, elevated liver enzymes, low platelets), hyperemesis gravidarum, acute fatty liver of pregnancy, and maternal floor infarction of the placenta.

Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD) References

Fatty Acid Elongation In Mitochondria References