Rare Nephrology News
Disease Profile
3-alpha hydroxyacyl-CoA dehydrogenase 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.
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Age of onset
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ICD-10
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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)
3-hydroxylacyl-CoA dehydrogenase deficiency; Medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency; M/SCHAD;
Categories
Congenital and Genetic Diseases; Endocrine Diseases; Metabolic disorders;
Summary
Orpha Number: 71212
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
|
|---|---|---|
| 100% of people have these symptoms | ||
| Decreased 3-hydroxyacyl-CoA dehydrogenase level | 0100950 | |
| 80%-99% of people have these symptoms | ||
| Abnormal circulating acetylcarnitine concentration | 0012071 | |
| Confusion |
Disorientation
Easily confused
Mental disorientation
[ more ] |
0001289 |
| Diarrhea |
Watery stool
|
0002014 |
| Dicarboxylic aciduria | 0003215 | |
| Elevated hepatic transaminase |
High liver enzymes
|
0002910 |
| Fasting hyperinsulinemia |
High blood insulin levels while fasting
|
0008283 |
| Hepatic steatosis |
Fatty infiltration of liver
Fatty liver
[ more ] |
0001397 |
| Hyperinsulinemic |
0000825 | |
| Hypoglycemic |
0006929 | |
| Hypoglycemic |
0002173 | |
| Hypoketotic hypoglycemia | 0001985 | |
| Increased circulating free fatty acid level | 0030781 | |
| Increased C |
0030796 | |
| Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
| Lethargy | 0001254 | |
| Neonatal hypoglycemia |
Low blood sugar in newborn
|
0001998 |
| Neonatal |
Low muscle tone, in neonatal onset
|
0001319 |
| Proportionate |
0003508 | |
| Vomiting |
Throwing up
|
0002013 |
| 5%-29% of people have these symptoms | ||
| Decreased plasma carnitine | 0003234 | |
| Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
| Feeding difficulties in infancy | 0008872 | |
| Hyperammonemia |
High blood ammonia levels
|
0001987 |
| Lactic acidosis |
Increased lactate in body
|
0003128 |
| Mildly elevated creatine kinase | 0008180 | |
| Motor delay | 0001270 | |
| 0009830 | ||
| Pigmentary retinopathy | 0000580 | |
| Prolonged prothrombin time | 0008151 | |
| 1%-4% of people have these symptoms | ||
| Acute hepatic failure |
Acute liver failure
|
0006554 |
| Dilated |
Stretched and thinned heart muscle
|
0001644 |
| Hepatic necrosis | 0002605 | |
| Hypertrophic cardiomyopathy |
Enlarged and thickened heart muscle
|
0001639 |
| Myoglobinuria | 0002913 | |
| Prolonged QT interval | 0001657 | |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000007 | ||
| Fulminant hepatic failure | 0004448 | |
| Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
| Growth delay |
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ] |
0001510 |
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.
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.
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 Providing General Support
-
MitoAction
PO Box 310
Novi, MI 48376
Toll-free: 888-648-6228
E-mail: info@mitoaction.org
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: info@umdf.org
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 3-alpha hydroxyacyl-CoA dehydrogenase 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
- 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 3-alpha hydroxyacyl-CoA dehydrogenase deficiency. Click on the link to view a sample search on this topic.