Long-Chain L-3 Hydroxyacyl-CoA Dehydrogenase deficiency (LCHAD)
Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) is a condition in which the body is unable to break down certain fats. It is considered a fatty acid oxidation condition because people affected by LCHAD are unable to change some of the fats they eat into energy the body needs to function. Too many unused fatty acids build up in the body. Individuals with LCHAD deficiency are at risk for serious heart problems, breathing difficulties, coma, and sudden death. Detecting the condition early and beginning treatment can prevent many of the severe outcomes of LCHAD.
This condition is also known as: long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency, long-chain 3-OH acyl-CoA dehydrogenase deficiency, type 1 trifunctional protein deficiency, long chain hydroxy acyl-CoA dehydrogenase deficiency.
For more information about Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency, visit Screening, Technology, and Research in Genetics (STAR-G): Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency and Baby's First Test: Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency. Please see Medically Prescribed Formula for information about medically prescribed formula and pharmacologic interventions for inborn errors of metabolism. Visit Pediatric Metabolic Providers for a listing of medical specialists and clinic contact information.