Long-chain 3-hydroxyacyl-coa dehydrogenase deficiency

Overview

What is LCHADD?

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a problem breaking down a type of body fat in order to make energy. Usually when the body makes energy it uses the most available fuel like sugars, but when someone is sick, not eating (fasting), dieting, or stressed it needs fuel from another source such as the fatty acids. A person with LCHADD who needs to use fatty acids for energy but can't break them down to use, quickly has serious medical problems during illness or fasting. These problems include problems eating, lack of energy (lethargy), low blood sugar (hypoglycemia), weak muscles (hypotonia), liver problems, and eye problems (retina). Without treatment, these medical issues can quickly turn serious and leads to heart problems, breathing difficulties, coma, and sudden death. People with LCHADD need a special diet and an emergency plan if they become ill or aren't eating to be as healthy as possible and avoid severe medical episodes.

Often people with LCHADD first have symptoms as babies or children. In the past, LCHADD was not often diagnosed until a baby was very sick or after they passed away from apparent Sudden Infant Death Syndrome (SIDS). Now testing at birth (newborn screening) happens in all states in the United States for LCHADD. A newborn screen that suggests a baby may have LCHADD is one with high levels of a specific fat. This result is called "Elevated C16-OH +/- C18 and Other Long Chain Acylcarnitines". Having a positive newborn screen with these high levels does not mean the baby has been diagnosed with LCHADD for sure, but doctors usually work closely with metabolic dietitians and medical geneticists as they learn more about the baby and do more blood tests.

To find a metabolic dietitian specializing in diets for people with metabolic conditions like LCHADD, visit the GMDI Find a Metabolic Dietitian webpage.

To find a medical professional nearby who can discuss information and testing, A listing of medical geneticists can be found at the American College of Medical Geneticists website and genetic counselors can be found on the National Society of Genetic Counselors website.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/long-chain-3-hydroxyacyl-coa-dehydrogenase-deficiency/overview/54507 • DATE UPDATED: 2017-08-02

References

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