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Disease Profile
VLCAD deficiency
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.
1-9 / 100 000
Age of onset
Infancy
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
Other names (AKA)
Very long-chain acyl-CoA dehydrogenase deficiency; VLCADD
Categories
Congenital and Genetic Diseases; Heart Diseases; Metabolic disorders;
Summary
VLCAD deficiency is a condition in which the body is unable to properly breakdown certain fats (called very long-chain fatty acids) into energy, particularly during periods without food (fasting). Signs and symptoms can occur during infancy, childhood or adulthood depending on the form of the condition and may include
Symptoms
Signs and symptoms of the severe, early-onset form occur in the first few months of life and include
People affected by the hepatic or hypoketotic hypoglycemic form typically develop symptoms during early childhood. These features may include hypoketotic hypoglycemia and enlarged liver (without cardiomyopathy). "Hypoketotic" refers to a low level of ketones, which are produced during the breakdown of fats and used for energy. Hypoglycemia refers to low blood sugar. Together, these signs are called "hypoketotic hypoglycemia."[1]
The episodes of hypoglycemia seen in the early-onset form and hepatic/hypoketotic hypoglycemia form can cause a child to feel weak, shaky and/or dizzy with clammy, cold skin. If not treated, it can lead to coma, and possibly death. Periods of hypoglycemia can also occur with other symptoms as part of a metabolic crisis.[4]
Signs and symptoms of the later-onset episodic myopathic form may include intermittent rhabdomyolysis (breakdown of muscle), muscle cramps, muscle pain, and exercise intolerance. It is the most common form of VLCAD deficiency.[1]
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
|
---|---|---|
30%-79% of people have these symptoms | ||
Increased circulating free fatty acid level | 0030781 | |
5%-29% of people have these symptoms | ||
Elevated hepatic transaminase |
High liver enzymes
|
0002910 |
Elevated serum creatine kinase |
Elevated blood creatine phosphokinase
Elevated circulating creatine phosphokinase
Elevated creatine kinase
Elevated serum CPK
Elevated serum creatine phosphokinase
High serum creatine kinase
Increased CPK
Increased creatine kinase
Increased creatine phosphokinase
Increased serum CK
Increased serum creatine kinase
Increased serum creatine phosphokinase
[ more ] |
0003236 |
Episodic tachypnea | 0002876 | |
Exercise-induced rhabdomyolysis | 0009045 | |
Feeding difficulties |
Feeding problems
Poor feeding
[ more ] |
0011968 |
Hepatomegaly |
Enlarged liver
|
0002240 |
Hypoketotic hypoglycemia | 0001985 | |
Hypothermia |
Abnormally low body temperature
|
0002045 |
Yellow skin
Yellowing of the skin
[ more ] |
0000952 | |
Overweight | 0025502 | |
Patent foramen ovale | 0001655 | |
Respiratory distress |
Breathing difficulties
Difficulty breathing
[ more ] |
0002098 |
Small for gestational age |
Birth weight less than 10th percentile
Low birth weight
[ more ] |
0001518 |
Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
1%-4% of people have these symptoms | ||
Anteriorly placed anus | 0001545 | |
Atrioventricular block |
Interruption of electrical communication between upper and lower chambers of heart
|
0001678 |
Dilated cardiomyopathy |
Stretched and thinned heart muscle
|
0001644 |
Enlarged cisterna magna | 0002280 | |
Hyperammonemia |
High blood ammonia levels
|
0001987 |
Hypocalcemia |
Low blood calcium levels
|
0002901 |
Hypoproteinemia |
Decreased protein levels in blood
|
0003075 |
Infantile muscular |
Decreased muscle tone in infant
|
0008947 |
Inflammatory abnormality of the skin |
Skin inflammation
|
0011123 |
Lethargy | 0001254 | |
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ] |
0000256 |
Metabolic acidosis | 0001942 | |
Muscle spasm | 0003394 | |
Obesity |
Having too much body fat
|
0001513 |
Pain | 0012531 | |
Pericardial effusion |
Fluid around heart
|
0001698 |
Pneumonia | 0002090 | |
Prolonged QT interval | 0001657 | |
Ventricular fibrillation | 0001663 | |
Ventricular tachycardia | 0004756 | |
Vomiting |
Throwing up
|
0002013 |
Cause
Diagnosis
GeneReview's Web site offers more specific information about the diagnosis of VLCAD deficiency. Please click on the link to access this resource.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics 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.
- 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
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.
Related diseases
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
|
---|
Differential diagnosis includes other long chain fat oxidation defects. Myopathic carnitine palmitoyl transferase II deficiency (see this term) has a presentation identical to the myopathic presentation of VLCADD.
Visit the Orphanet disease page for more information.
|
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
-
FOD (Fatty Oxidation Disorder) Family Support Group
P.O. Box 54
Okemos, MI 48805-0054
Telephone: +1-517-381-1940 [8am 8pm EST every day]
Fax: +1-866-290-5206
E-mail: [email protected]
Website: https://fodsupport.org/
Organizations Providing General Support
-
MitoAction
PO Box 310
Novi, MI 48376
Toll-free: 888-648-6228
E-mail: [email protected]
Website: https://www.mitoaction.org/ -
United Mitochondrial Disease Foundation
8085 Saltsburg Road, Suite 201
Pittsburgh, PA 15239
Toll-free: 1-888-317-8633
Telephone: +1-412-793-8077
Fax: +1-412-793-6477
E-mail: [email protected]
Website: https://www.umdf.org
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
- Genetics Home Reference (GHR) contains information on VLCAD deficiency. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- 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
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- 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 VLCAD deficiency. Click on the link to view a sample search on this topic.
References
- Nancy D Leslie, MD, C Alexander Valencia, PhD, Arnold W Strauss, MD, Jessica Connor, MS, and Kejian Zhang, MD, MBA. Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. GeneReviews. September 2014; https://www.ncbi.nlm.nih.gov/books/NBK6816/.
- Very Long Chain Acyl CoA Dehydrogenase Deficiency (LCAD). NORD. 2013; https://rarediseases.org/rare-diseases/very-long-chain-acyl-coa-dehydrogenase-deficiency-lcad/.
- VLCAD deficiency. Genetics Home Reference Web site. 11/2009; https://ghr.nlm.nih.gov/condition/very-long-chain-acyl-coa-dehydrogenase-deficiency.
- Very long chain acyl-CoA dehydrogenase. STAR-G. July 2013; https://www.newbornscreening.info/Parents/fattyaciddisorders/VLCADD.html#3.
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