Rare Hematology News
Advertisement
Disease Profile
HSD10 disease
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.
<1 >
Age of onset
Neonatal
ICD-10
E72.8
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)
HSD10 deficiency; 3H2MBD deficiency; 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency;
Categories
Congenital and Genetic Diseases; Metabolic disorders; Nervous System Diseases;
Summary
HSD10 disease (also known as 2-methyl-3-hydroxybutyric aciduria) is an
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 | ||
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 |
Loss of developmental milestones
Mental deterioration in childhood
[ more ] |
0002376 | |
Elevated urinary 3-hydroxybutyric acid | 0040155 | |
Global |
0001263 | |
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 |
0001250 | ||
Specific learning disability | 0001328 | |
5%-29% of people have these symptoms | ||
Abnormal social behavior |
Abnormal social behaviour
|
0012433 |
0001251 | ||
Autistic behavior | 0000729 | |
Choreoathetosis | 0001266 | |
Chronic lactic acidosis | 0004925 | |
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 |
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 |
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] |
0002015 | |
Gastrointestinal dysmotility | 0002579 | |
Hyperreflexia |
Increased reflexes
|
0001347 |
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 |
0007030 | |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Postnatal growth retardation |
Growth delay as children
|
0008897 |
Rigidity |
Muscle rigidity
|
0002063 |
Spastic paraparesis | 0002313 | |
Tremor | 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 |
Enlarged and thickened heart muscle
|
0001639 |
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 |
0001423 |
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.
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
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: [email protected]
Website: https://www.oaanews.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 HSD10 disease. 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.
References
- 17ß-hydroxysteroid dehydrogenase type 10 deficiency. Genetics Home Reference. October 2009; https://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; https://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/2M3HBA. Accessed 3/24/2010.