Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

LCHAD deficiency


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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

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).[1][2] 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.[1] This condition is inherited in an autosomal recessive pattern and is caused by mutations in the HADHA gene.[1][2][3] Treatment includes includes diet and low-dose carnitine supplements, as well as avoiding fasting.[4] 
Last updated: 3/22/2016

References

  1. LCHAD deficiency. Genetics Home Reference. July 2009; http://www.ghr.nlm.nih.gov/condition/long-chain-3-hydroxyacyl-coa-dehydrogenase-deficiency.
  2. 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.
  3. LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY. Online Mendelian Inheritance in Man (OMIM). March 4, 2013; http://www.omim.org/entry/609016.
  4. De Biase I, Viau KS, Liu A, Yuzyuk T, Botto LD, Pasquali M & Longo N. Diagnosis, Treatment, and Clinical Outcome of Patients with Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency. JIMD Rep. April, 2016; 28:https://www.ncbi.nlm.nih.gov/pubmed/27117294.
GARD Video Tutorials
GARD Video Tutorials
Learn how to find information on treatment, research, specialists, and more.
Contact GARD
Contact GARD
Contact a GARD Information Specialist with your questions about this condition.

Basic Information

  • 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.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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.

Selected Full-Text Journal Articles

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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.