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Disease Profile
Primary carnitine 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.
0
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)
Systemic primary carnitine deficiency; Carnitine uptake defect; Carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine;
Categories
Congenital and Genetic Diseases; Heart Diseases; Metabolic disorders;
Summary
Primary carnitine deficiency is a genetic condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). The nature and severity of signs and symptoms may vary, but they most often appear during infancy or early childhood and can include severe brain dysfunction (
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 | ||
Acute |
0006846 | |
Bilateral tonic-clonic |
0007334 | |
Clumsiness | 0002312 | |
Confusion |
Disorientation
Easily confused
Mental disorientation
[ more ] |
0001289 |
Elevated hepatic transaminase |
High liver enzymes
|
0002910 |
Hepatomegaly |
Enlarged liver
|
0002240 |
Neck muscle weakness |
Floppy neck
|
0000467 |
Vomiting |
Throwing up
|
0002013 |
Percent of people who have these symptoms is not available through HPO | ||
0000007 | ||
Cardiomegaly |
Enlarged heart
Increased heart size
[ more ] |
0001640 |
Coma | 0001259 | |
Congestive heart failure |
Cardiac failure
Cardiac failures
Heart failure
[ more ] |
0001635 |
Decreased carnitine level in liver | 0045061 | |
Decreased plasma carnitine | 0003234 | |
Encephalopathy | 0001298 | |
Endocardial fibroelastosis | 0001706 | |
Excessive daytime somnolence |
Excessive daytime sleepiness
More than typical sleepiness during day
[ more ] |
0001262 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Generalized |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Hepatic steatosis |
Fatty infiltration of liver
Fatty liver
[ more ] |
0001397 |
Hyperammonemia |
High blood ammonia levels
|
0001987 |
Hypertrophic |
Enlarged and thickened heart muscle
|
0001639 |
Low blood sugar
|
0001943 | |
Impaired gluconeogenesis | 0005959 | |
Lethargy | 0001254 | |
Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
Myopathy |
Muscle tissue disease
|
0003198 |
Recurrent hypoglycemia |
Recurrent low blood sugar levels
|
0001988 |
Reduced muscle carnitine level | 0030362 |
Cause
Mutations in the SLC22A5 gene result in an absent or dysfunctional OCTN2 protein. As a result, there is a shortage (deficiency) of carnitine within cells. This deficiency, as well as potential build-up of fatty acids within the cells, causes the signs and symptoms of the condition.[1]
Diagnosis
Although the condition is typically associated with the infantile presentation in about half of affected individuals and the childhood myopathic presentation in the other half, affected adults with mild or no symptoms have been reported. Several women have been diagnosed after
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.
- 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.
Treatment
In addition to L-carnitine, infants and young children with primary carnitine deficiency need to eat frequently to prevent a metabolic crisis. In general, it is often suggested that infants be fed every four to six hours. But some babies need to eat even more frequently than this. Many teens and adults with this condition can go without food for up to 12 hours without problems. Some children and teens benefit from a low-fat, high carbohydrate diet. Any diet changes should be made under the guidance of a metabolic specialist and/or dietician familiar with this condition. Ask your doctor whether your child needs to have any changes in his or her diet. Other treatments usually need to be continued throughout life.[4]
Infants and children with this condition need to eat extra starchy food and drink more fluids during any illness, even if they may not feel hungry, because they could have a metabolic crisis. Children who are sick often do not want to eat. If they won’t or can’t eat, they may need to be treated in the hospital to prevent serious health problems.[4]
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.
FDA-Approved Treatments
The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.
- Levocarnitine(Brand name: Carnitor®) Manufactured by Sigma-Tau Pharmaceuticals, Inc.
FDA-approved indication: Treatment of primary and secondary carnitine deficiency.
National Library of Medicine Drug Information Portal
Medline Plus Health Information
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 diagnoses include other fat oxidation defects such as medium chain acyl-CoA dehydrogenase deficiency and very long chain acyl-CoA dehydrogenase deficiency.
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/ -
Metabolic Support UK
5 Hilliards Court
Sandpiper Way
Chester Business Park
Chester, CH4 9QP United Kingdom
Toll-free: 0800 652 3181
Telephone: 0845 241 2173
E-mail: https://www.metabolicsupportuk.org/contact-us
Website: https://www.metabolicsupportuk.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 Primary carnitine 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 Primary carnitine deficiency. Click on the link to view a sample search on this topic.
References
- Primary carnitine deficiency. Genetics Home Reference. September 2014; https://www.ghr.nlm.nih.gov/condition/primary-carnitine-deficiency.
- Ayman W El-Hattab. Systemic Primary Carnitine Deficiency. GeneReviews. November 3, 2016; https://www.ncbi.nlm.nih.gov/books/NBK84551/.
- Systemic Primary Carnitine Deficiency. GeneReviews. March 15, 2012; https://www.ncbi.nlm.nih.gov/books/NBK84551/.
- Carnitine transporter deficiency. Screening, Technology, and Research in Genetics (STAR-G). 2/20/2016; https://www.newbornscreening.info/Parents/fattyaciddisorders/Carnitine.html.
- Fernando Scaglia. Carnitine Deficiency. Medscape Reference. April 13, 2010; https://emedicine.medscape.com/article/942233-overview.
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