National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

LCHAD deficiency

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Other Names:
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency; Long-chain 3-hydroxy acyl CoA dehydrogenase deficiency; Long-chain 3-OH acyl-CoA dehydrogenase deficiency; Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency; Long-chain 3-hydroxy acyl CoA dehydrogenase deficiency; Long-chain 3-OH acyl-CoA dehydrogenase deficiency; 3-hydroxyacyl-CoA dehydrogenase long chain deficiency See More
Categories:
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

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
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HPO ID
80%-99% of people have these symptoms
Hypoketotic hypoglycemia 0001985
Photophobia
Extreme sensitivity of the eyes to light
Light hypersensitivity
[ more ] 		0000613
30%-79% of people have these symptoms
Abnormal electroretinogram 0000512
Exotropia
Outward facing eye ball
0000577
Global developmental delay 0001263
Hepatomegaly
Enlarged liver
0002240
Hypertrophic cardiomyopathy
Enlarged and thickened heart muscle
0001639
Peripheral neuropathy 0009830
Visual loss
Loss of vision
Vision loss
[ more ] 		0000572
5%-29% of people have these symptoms
Abnormality of retinal pigmentation 0007703
Cholestatic liver disease 0002611
Chorioretinal atrophy 0000533
Failure to thrive
Faltering weight
Weight faltering
[ more ] 		0001508
Feeding difficulties
Feeding problems
Poor feeding
[ more ] 		0011968
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ] 		0001290
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] 		0000545
Nyctalopia
Night blindness
Night-blindness
Poor night vision
[ more ] 		0000662
Posterior staphyloma 0030856
Retinopathy
Noninflammatory retina disease
0000488
Seizure 0001250
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
Cardiomyopathy
Disease of the heart muscle
0001638
Decreased 3-hydroxyacyl-CoA dehydrogenase level 0100950
Hypoglycemia
Low blood sugar
0001943
Muscular hypotonia
Low or weak muscle tone
0001252
Pigmentary retinopathy 0000580
Sudden death 0001699
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Last updated: 7/1/2020

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Newborn Screening

  • An ACTion (ACT) sheet is available for this condition that describes the short-term actions a health professional should follow when an infant has a positive newborn screening result. ACT sheets were developed by experts in collaboration with the American College of Medical Genetics.
  • An Algorithm flowchart is available for this condition for determining the final diagnosis in an infant with a positive newborn screening result. Algorithms are developed by experts in collaboration with the American College of Medical Genetics.
  • Baby's First Test is the nation's newborn screening education center for families and providers. This site provides information and resources about screening at the local, state, and national levels and serves as the Clearinghouse for newborn screening information.
  • The Newborn Screening Coding and Terminology Guide has information on the standard codes used for newborn screening tests. Using these standards helps compare data across different laboratories. This resource was created by the National Library of Medicine.
  • National Newborn Screening and Global Resource Center (NNSGRC) provides information and resources in the area of newborn screening and genetics to benefit health professionals, the public health community, consumers and government officials.

The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

Management Guidelines

  • Orphanet Emergency Guidelines is an article which is expert-authored and peer-reviewed that is intended to guide health care professionals in emergency situations involving this condition.  

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Mitochondrial trifunctional protein deficiency (TFPD; see this term) is clinically indistinguishable from LCHADD. Some patients present as sudden infant death so this also needs to be excluded.
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to LCHAD deficiency. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
  • The North American Mitochondrial Disease Consortium (NAMDC) is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with this condition through research.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • 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

News

Other Conferences

  • The International Network for Fatty Acid Oxidation Research and Management (INFORM) was formed in order to promote research and discussion into the cause, diagnosis, and management of fatty acid oxidation disorders (FAODs). They offer several learning opportunities throughout the year for patients, families, and researchers. INFORM's Annual Meeting will be held on August 30th and 31st, 2020 in Freiberg, Germany preceding the Society for the Study of Inborn Errors of Metabolism (SSIEM). The Network also continues to provide a collaborative framework for ongoing communication and research regarding FAODs.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  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.