2-methyl-3-hydroxybutyric aciduria

Title

Other Names:

HSD10 deficiency; 3H2MBD deficiency; 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency; HSD10 deficiency; 3H2MBD deficiency; 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency; Hydroxyacyl-CoA dehydrogenase II deficiency; 2M3HBA; 17 beta-hydroxysteroid dehydrogenase type 10 deficiency; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency; MHBD deficiency See More

Categories:

Congenital and Genetic Diseases; Metabolic disorders; Nervous System Diseases; Congenital and Genetic Diseases; Metabolic disorders; Nervous System Diseases; Newborn Screening See More

Summary Summary

2-methyl-3-hydroxybutyric aciduria is an inherited disorder in which the body cannot effectively process the amino acid isoleucine. Signs and symptoms of this condition usually develop in infancy or early childhood and include metabolic acidosis, hypoglycemia, hypotonia, seizures, movement problems, retinal degeneration, and hearing loss. Affected males have severe neurodegeneration with loss of developmental milestones, whereas females have mild to moderate developmental delay. 2-methyl-3-hydroxybutyric aciduria is caused by mutations in the HSD17B10 gene; it has an X-linked dominant pattern of inheritance.^[1]^[2]

Last updated: 3/24/2010

Symptoms 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.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Abnormal urinary acylglycine profile		0012073
30%-79% of people have these symptoms
Delayed speech and language development	Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired speech and language development Impaired speech development Language delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language difficulties Speech delay [ more ]	0000750
Developmental regression	Loss of developmental milestones Mental deterioration in childhood [ more ]	0002376
Elevated urinary 3-hydroxybutyric acid		0040155
Global developmental delay		0001263
Intellectual disability, moderate	IQ between 34 and 49	0002342
Progressive visual loss	Progressive loss of vision Progressive vision loss Progressive visual impairment Slowly progressive visual loss Vision loss, progressive Visual loss, progressive [ more ]	0000529
Seizures	Seizure	0001250
Specific learning disability		0001328
5%-29% of people have these symptoms
Abnormal social behavior	Abnormal social behaviour	0012433
Ataxia		0001251
Autistic behavior		0000729
Choreoathetosis		0001266
Chronic lactic acidosis		0004925
Dysarthria	Difficulty articulating speech	0001260
Focal white matter lesions		0007042
Frontotemporal cerebral atrophy		0006892
Gait disturbance	Abnormal gait Abnormal walk Impaired gait [ more ]	0001288
Hearing impairment	Deafness Hearing defect [ more ]	0000365
Infantile muscular hypotonia	Decreased muscle tone in infant	0008947
Myoclonus		0001336
Optic atrophy		0000648
Short attention span	Poor attention span Problem paying attention [ more ]	0000736
1%-4% of people have these symptoms
Drooling	Dribbling	0002307
Dysphagia	Poor swallowing Swallowing difficulties Swallowing difficulty [ more ]	0002015
Gastrointestinal dysmotility		0002579
Hyperreflexia	Increased reflexes	0001347
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Nasogastric tube feeding in infancy		0011470
Nonprogressive encephalopathy		0007030
Nystagmus	Involuntary, rapid, rhythmic eye movements	0000639
Postnatal growth retardation	Growth delay as children	0008897
Rigidity	Muscle rigidity	0002063
Spastic paraparesis		0002313
Tremor	Tremors	0001337
Ventriculomegaly		0002119
Percent of people who have these symptoms is not available through HPO
Abnormal mitochondrial morphology		0008322
Aggressive behavior	Aggression Aggressive behaviour Aggressiveness [ more ]	0000718
Agitation		0000713
Cerebral cortical atrophy	Decrease in size of the outer layer of the brain due to loss of brain cells	0002120
Generalized hypotonia	Decreased muscle tone Low muscle tone [ more ]	0001290
Hypertrophic cardiomyopathy	Enlarged and thickened heart muscle	0001639
Hypoglycemia	Low blood sugar	0001943
Infantile onset	Onset in first year of life Onset in infancy [ more ]	0003593
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Lactic acidosis	Increased lactate in body	0003128
Metabolic acidosis		0001942
Muscular hypotonia	Low or weak muscle tone	0001252
Progressive neurologic deterioration	Worsening neurological symptoms	0002344
Restlessness		0000711
Retinal degeneration	Retina degeneration	0000546
Sensorineural hearing impairment		0000407
Spastic tetraplegia		0002510
Visual loss	Loss of vision Vision loss [ more ]	0000572
X-linked dominant inheritance		0001423

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 1/1/2020

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

Diagnosis 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

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.

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Related Diseases 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
Biochemical abnormalities may resemble beta-ketothiolase deficiency. Clinical abnormalities are similar in other disorders affecting mtDNA transcript processing, in particular ELAC2-associated disease (combined oxidative phosphorylation defect type 17). Visit the Orphanet disease page for more information.

Organizations 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

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
Organic Acidemia Association
9040 Duluth Street
Golden Valley, MN 55427
Telephone: 763-559-1797
Fax: 866-539-4060
E-mail: mkstagni@gmail.com
Website: http://www.oaanews.org/

Do you know of an organization? We want to hear from you.

Learn More 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 2-methyl-3-hydroxybutyric aciduria. This website is maintained by the National Library of Medicine.

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.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References

17ß-hydroxysteroid dehydrogenase type 10 deficiency. Genetics Home Reference. October 2009; http://ghr.nlm.nih.gov/condition=17betahydroxysteroiddehydrogenasetype10deficiency. Accessed 3/24/2010.
2M3HBA - 2-Methyl-3-hydroxybutyric aciduria. Newborn Screening Coding and Terminology Guide. December 19, 2008; http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/2M3HBA. Accessed 3/24/2010.

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