Other Names for this Disease
- Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
- Long-chain 3-hydroxy acyl CoA dehydrogenase deficiency
- Long-chain 3-OH acyl-CoA dehydrogenase deficiency
- Trifunctional protein deficiency type 1
- 3-hydroxyacyl-CoA dehydrogenase long chain deficiency
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 Signs and symptoms typically appear during infancy or early childhood and can include feeding difficulties, lack of energy, low blood sugar (hypoglycemia), weak muscle tone (hypotonia), liver problems, and abnormalities in the retina. Later in childhood, people with this condition may experience muscle pain, breakdown of muscle tissue, and peripheral neuropathy. Individuals with LCHAD deficiency are also at risk for serious heart problems, breathing difficulties, coma, and sudden death. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the HADHA gene.[OMIM]LCHAD deficiency, or long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, is a mitochondrial condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting).
Last updated: 3/22/2016
- LCHAD deficiency. Genetics Home Reference. July 2009; http://www.ghr.nlm.nih.gov/condition/long-chain-3-hydroxyacyl-coa-dehydrogenase-deficiency.
- Olpin S. Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Orphanet. February 2014; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=5.
- LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY. Online Mendelian Inheritance in Man (OMIM). March 4, 2013; http://www.omim.org/entry/609016.
- Genetics Home Reference (GHR) contains information on LCHAD deficiency. This website is maintained by the National Library of Medicine.
- The Screening, Technology And Research in Genetics (STAR-G) Project has a fact sheet on this condition, which was written specifically for families that have received a diagnosis as a result of newborn screening. This fact sheet provides general information about the condition and answers questions that are of particular concern to parents.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss LCHAD deficiency. Click on the link to view a sample search on this topic.
- den Boer, et al. Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency: Clinical Presentation and Follow-Up of 50 Patients. Pediatrics. 2002;109:99-104.