Long-Chain L-3 Hydroxyacyl-CoA Dehydrogenase deficiency (LCHAD)
Long-chain L-3 hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is an inborn error of metabolism, an inherited condition in which an enzyme, long-chain L-3 hydroxyacyl-CoA dehydrogenase, in the body is either missing or not working well. The job of this enzyme is to help break down certain fats to use for energy. LCHAD deficiency is considered a fatty acid oxidation condition because people with LCHAD deficiency are unable to change some fats into the energy the body needs to function and too many unused fatty acids build up in the body. Symptoms can vary and may include poor feeding, vomiting, low blood sugar (hypoglycemia), extreme tiredness/lethargy, breathing difficulties, reddish-brown colored urine, muscle problems that can lead to kidney problems, nerve problems, liver problems, heart problems, vision loss and/or other potential signs and symptoms. LCHAD deficiency can be a life-threatening condition. Illness or infections, physical over-exertion, and going too long without food for any reason are some examples of circumstances that could also trigger symptoms of LCHAD deficiency. Management includes the avoidance of prolonged fasting and often includes a special diet, medication/supplements, other special precautions and emergency recommendations. Early detection and intervention can benefit children with LCHAD deficiency. Support groups are available to help connect families living with LCHAD deficiency with others who have experience or expertise with this condition.
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. A listing of contact information for Minnesota inborn errors of metabolism medical specialty providers/clinics serving children affected with or undergoing evaluation for conditions that can be detected through Minnesota Newborn Screening is available upon request.