This deficiency is the second most common fatty acid oxidation disorder. It causes symptoms similar to those caused by MCADD. People may also have progressive impairment of the structure and function of the muscular walls of the heart chambers (cardiomyopathy), damage to the nerves of the hands and feet, and abnormal liver function. When children exert themselves, such as when exercising, the muscle tissue may become destroyed (rhabdomyolysis) and the damaged muscles may release the protein myoglobin, which turns the urine brown or bloody (myoglobinuria).
A woman whose fetus has LCHADD often has hemolysis (the breakdown of red blood cells), elevated levels of liver enzymes (indicating liver damage), and a low platelet count (called HELLP syndrome) while pregnant.
Doctors diagnose LCHADD by testing the blood for certain acids. Tests of skin cells are done to look for levels of certain enzymes. Genetic testing, which is used to determine whether a couple is at increased risk of having a baby with a hereditary genetic disorder, is also available. All states in the United States require all newborns be screened for LCHADD with a blood test.
Immediate treatment of an LCHADD attack is with hydration and glucose given by vein, bed rest, and supplements of the amino acid carnitine. For long-term treatment, children must eat often, avoid strenuous exercise, and consume a diet high in carbohydrates. Children are also given supplements of triglycerides.
