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Disease Profile

LCHAD deficiency

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Infancy

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ICD-10

E71.3

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency; Long-chain 3-hydroxy acyl CoA dehydrogenase deficiency; Long-chain 3-OH acyl-CoA dehydrogenase deficiency;

Categories

Congenital and Genetic Diseases; Endocrine Diseases; Eye diseases;

Summary

Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting).

Signs and symptoms of LCHAD deficiency typically appear during infancy or early childhood and can include feeding difficulties, lack of energy (lethargy), low blood sugar (hypoglycemia), weak muscle tone (hypotonia), liver problems, and abnormalities in the light-sensitive tissue at the back of the eye (retina). Later in childhood, people with this condition may experience muscle pain, breakdown of muscle tissue, and a loss of sensation in their arms and legs (peripheral neuropathy). Individuals with LCHAD deficiency are also at risk for serious heart problems, breathing difficulties, coma, and sudden death.

Problems related to LCHAD deficiency can be triggered when the body is under stress, for example during periods of fasting, illnesses such as viral infections, or weather extremes. This disorder is sometimes mistaken for Reye syndrome, a severe disorder that may develop in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections.

This disease summary is from MedlinePlus Genetics, an online health information resource from the National Institutes of Health.

Symptoms

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.

Medical Terms Other Names
Learn More:
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

Diagnosis

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.

    Treatment

    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.

      Organizations

      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

        Organizations Providing General Support

          Learn more

          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

          • MedlinePlus Genetics 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

                References

                1. LCHAD deficiency. Genetics Home Reference. July 2009; https://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; https://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; https://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.