2-methylbutyryl-CoA dehydrogenase deficiency

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Disease Profile

<1 / 1 000 000

US Estimated

Europe Estimated

Age of onset

Infancy

ICD-10

E71.1

Inheritance

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.

Not applicable

Other names (AKA)

SBCAD deficiency; 2-methylbutyric aciduria; Short branched-chain acyl-CoA dehydrogenase deficiency

Summary

2-methylbutyryl-CoA dehydrogenase deficiency is an organic acid disorder in which individuals lack adequate levels of an enzyme called 2-methylbutyryl-CoA dehydrogenase. This enzyme assists in the processing of a particular amino acid called isoleucine. The inability to process isoleucine correctly leads to the buildup of the amino acid in the body. The buildup can cause a variety of health problems, which vary widely from severe and life-threatening to mild or absent. Signs and symptoms of the disorder can begin a few days after birth or later in childhood. The initial symptoms often include poor feeding, lack of energy, vomiting, and irritability. These symptoms sometimes progress to serious medical problems such as difficulty breathing, seizures, and coma.^[1][^[2] This condition is caused by mutations in the ACADSB gene. It is inherited in an autosomal recessive pattern.^[1] Treatment, when needed, includes a lowprotein diet, specialty formulas, foods and supplements, and careful observation if illness occurs.^[2]

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
Percent of people who have these symptoms is not available through HPO
Apneic episodes in infancy		0005949
Autosomal recessive inheritance		0000007
Exotropia	Outward facing eye ball	0000577
Generalized amyotrophy	Diffuse skeletal muscle wasting Generalized muscle degeneration Muscle atrophy, generalized [ more ]	0003700
Generalized hypotonia	Decreased muscle tone Low muscle tone [ more ]	0001290
Global developmental delay		0001263
Hypoglycemia	Low blood sugar	0001943
Hypothermia	Abnormally low body temperature	0002045
Infantile onset	Onset in first year of life Onset in infancy [ more ]	0003593
Lethargy		0001254
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Motor delay		0001270
Muscular hypotonia	Low or weak muscle tone	0001252
Seizure		0001250

Do you have updated information on this disease? We want to hear from you.

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

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.
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.
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.

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

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. Click on the link to view the article on organic acidemias.

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/
Organic Acidemia Association
9040 Duluth Street
Golden Valley, MN 55427
Telephone: 763-559-1797
Fax: 866-539-4060
E-mail: [email protected]
Website: https://www.oaanews.org/
Save Babies Through Screening Foundation, Inc
P.O. Box 2313
Palm Harbor, FL 34682-2313
Toll-free: 888-454-3383
E-mail: [email protected]
Website: https://www.savebabies.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

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.

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.

References

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.

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