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Disease Profile
Succinic semialdehyde 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.
Unknown
Age of onset
Childhood
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)
4-hydroxybutyric aciduria; Gamma-hydroxybutyricaciduria; SSADH deficiency;
Categories
Congenital and Genetic Diseases; Metabolic disorders; Nervous System Diseases
Summary
Succinic semialdehyde dehydrogenase (SSADH) deficiency is a disorder that can cause a variety of neurological and neuromuscular problems. The signs and symptoms can be extremely variable among affected individuals and may include mild to severe
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 | ||
Abnormality of metabolism/homeostasis |
Laboratory abnormality
Metabolism abnormality
[ more ] |
0001939 |
Ataxia | 0001251 | |
Global developmental delay | 0001263 | |
Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 |
Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
30%-79% of people have these symptoms | ||
Behavioral abnormality |
Behavioral changes
Behavioral disorders
Behavioral disturbances
Behavioral problems
Behavioral/psychiatric abnormalities
Behavioural/Psychiatric abnormality
Psychiatric disorders
Psychiatric disturbances
[ more ] |
0000708 |
Bilateral tonic-clonic seizure |
Grand mal seizures
|
0002069 |
Generalized myoclonic seizure | 0002123 | |
Status epilepticus |
Repeated seizures without recovery between them
|
0002133 |
1%-4% of people have these symptoms | ||
Cerebellar atrophy |
Degeneration of cerebellum
|
0001272 |
Childhood onset |
Symptoms begin in childhood
|
0011463 |
Delayed |
0002188 | |
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 |
Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Hyporeflexia |
Decreased reflex response
Decreased reflexes
[ more ] |
0001265 |
Infantile onset |
Onset in first year of life
Onset in infancy
[ more ] |
0003593 |
Juvenile onset |
Signs and symptoms begin before 15 years of age
|
0003621 |
Motor delay | 0001270 | |
Seizure | 0001250 | |
Young adult onset | 0011462 | |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of eye movement |
Abnormal eye movement
Abnormal eye movements
Eye movement abnormalities
Eye movement issue
[ more ] |
0000496 |
Aggressive behavior |
Aggression
Aggressive behaviour
Aggressiveness
[ more ] |
0000718 |
Anxiety |
Excessive, persistent worry and fear
|
0000739 |
0000717 | ||
0000007 | ||
Decreased succinic semialdehyde dehydrogenase level | 0032530 | |
0002353 | ||
Elevated circulating gamma-aminobutyric acid concentration | 0032529 | |
Elevated CSF 4-hydroxybutyric acid concentration | 0032532 | |
Elevated CSF gamma-aminobutyric acid concentration | 0032531 | |
Elevated urinary 4-hydroxybutyric acid | 0032528 | |
Generalized non-motor (absence) seizure |
Brief seizures with staring spells
|
0002121 |
Hallucinations |
Hallucination
Sensory hallucination
[ more ] |
0000738 |
Hyperactivity |
More active than typical
|
0000752 |
Hyperkinetic movements |
Muscle spasms
|
0002487 |
Increased level of gamma-aminobutyric acid in urine | 0500253 | |
Psychomotor retardation | 0025356 | |
Psychosis | 0000709 | |
Self-injurious behavior |
Self-injurious behaviour
|
0100716 |
Cause
Diagnosis
Treatment
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
|
---|
The main differential diagnoses include gamma-aminobutyric acid transaminase deficiency and homocarnosinosis (see these terms).
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
Organizations Providing General Support
-
American Association on Intellectual and Developmental Disabilities
501 3rd Street NW
Suite 200
Washington, DC 20001
Toll-free: (800) 424-3688
Telephone: (202) 387-1968
Fax: (202) 387-2193
Website: https://www.aaidd.org -
Epilepsy Foundation
8301 Professional Place East
Suite 230
Landover, MD 20785
Toll-free: 800-332-1000 (24/7 Helpline)
Telephone: +1-301-459-3700
Fax: +1-301-577-2684
E-mail: [email protected]
Website: https://www.epilepsy.com/
en Español 1-866-748-8008 -
The Society for Developmental and Behavioral Pediatrics
6728 Old McLean Village Drive
McLean, VA 22101
Telephone: 703-556-9222
E-mail: [email protected]
Website: https://www.sdbp.org/index.cfm
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 Succinic semialdehyde dehydrogenase deficiency. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- 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.
- 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 Succinic semialdehyde dehydrogenase deficiency. Click on the link to view a sample search on this topic.
Selected Full-Text Journal Articles
- Pearl PL, Gibson KM, Cortez MA, et al. Succinic semialdehyde dehydrogenase deficiency: Lessons from mice and men. J. Inherit. Metab. Dis. 2009 June; 32(3):343-52.
References
- Succinic Semialdehyde Dehydrogenase Deficiency. NORD. 2003; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1113/viewAbstract. Accessed 9/25/2013.
- Succinic semialdehyde dehydrogenase deficiency. Genetics Home Reference. June 2008; https://ghr.nlm.nih.gov/condition/succinic-semialdehyde-dehydrogenase-deficiency. Accessed 9/25/2013.
- Pearl PL, Dorsey AM, Barrios ES, Gibson KM. Succinic Semialdehyde Dehydrogenase Deficiency. GeneReviews. September 19, 2013; https://www.ncbi.nlm.nih.gov/books/NBK1195/. Accessed 9/25/2013.
- Crutchfield SR, Haas RH, Nyhan WL, Gibson KM.. Succinic semialdehyde dehydrogenase deficiency: phenotype evolution in an adolescent patient at 20-year follow-up. Developmental medicine and child neurology. November 2008; 50(11):880-881. https://www.ncbi.nlm.nih.gov/pubmed?term=18811705. Accessed 9/25/2013.
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