2-methylbutyryl-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.
Age of Onset
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.
X-linked 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.
Other Names (AKA)
SBCAD deficiency; 2-methylbutyric aciduria; Short branched-chain acyl-CoA dehydrogenase deficiency
Congenital and Genetic Diseases; Metabolic disorders; Nervous System Diseases;
2-methylbutyryl-CoA dehydrogenase deficiency is an organic acid disorder in which individuals lack adequate levels of an
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||
|Percent of people who have these symptoms is not available through HPO|
|Apneic episodes in infancy||0005949|
Outward facing eye ball
Diffuse skeletal muscle wasting
Generalized muscle degeneration
Muscle atrophy, generalized
[ more ]
Decreased muscle tone
Low muscle tone
[ more ]
Low blood sugar
Abnormally low body temperature
Onset in first year of life
Onset in infancy
[ more ]
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
Low or weak muscle tone
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.
- The Newborn Screening Coding and Terminology Guide has information on the standard codes used for
newborn screeningtests. Using these standards helps compare data across different laboratories. This resource was created by the National Library of Medicine.
- 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
screeningresult. 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.
- Matern, et al. Prospective Diagnosis of 2-Methylbutyryl-CoA Dehydrogenase Deficiency in the Hmong Population by Newborn Screening Using Tandem Mass Spectrometry . Pediatrics, Jul 2003;112:74-78.
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.
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of
genetic testingto the diagnosis, management, and genetic counselingof patients with specific inheritedconditions. Click on the link to view the article on organic acidemias.
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.
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]
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.
- The Organic Acidemia Association has an information page on organic acidemias. Click on Organic Acidemia Association to view the information page.
- The Save Babies Through Screening Foundation, Inc. has an information page on 2-Methylbutyryl-Co A dehydrogenase deficiency. Click on the link above to view the information page.
- 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.
- 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.
- 2-methylbutyryl-coenzyme A dehydrogenase deficiency. Genetics Home Reference. April 2007; https://ghr.nlm.nih.gov/condition/2-methylbutyryl-coa-dehydrogenase-deficiency.
- 2-methylbutyryl CoA dehydrogenase deficiency. Screening, Technology and Research in Genetics (STAR-G). August 29, 2013; https://www.newbornscreening.info/Parents/organicaciddisorders/2MBC.html.