Succinic Semialdehyde Dehydrogenase Deficiency

Disease Overview

Summary

Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare inborn error of metabolism characterized by various neurological and neuromuscular symptoms and findings.

Signs and symptoms are extremely variable from person to person, including among affected members of the same families (kindreds). However, most individuals with SSADH deficiency have by mild to severe intellectual disability, delays in the acquisition of skills requiring the coordination of mental and physical activities (psychomotor delay) and delays in language and speech development.

In some people, initial findings may include diminished muscle tone (hypotonia), an impaired ability to coordinate voluntary movements (ataxia) and/or episodes of uncontrolled electrical activity in the brain (seizures).

Some affected individuals may also have additional abnormalities such as decreased reflex reactions (hyporeflexia); involuntary, rapid, rhythmic eye movements (nystagmus); increased muscular activity (hyperkinesis) and/or behavioral abnormalities.

SSHDH deficiency is caused by changes (variants) in the ALDH5A1 gene, which provides instructions for making the SSADH enzyme. The changes in the ALDH5A1 gene result in deficient activity of the SSADH enzyme disrupting the metabolism of gamma-aminobutyric acid (GABA). GABA is a natural chemical known as a “neurotransmitter” that serves to inhibit the electrical activities of nerve cells (inhibitory neurotransmitter). SSADH deficiency also leads to abnormal accumulation of the compound succinic semialdehyde, which is reduced or converted to GBH (gamma-hydroxybutyric acid). GHB is a natural compound that has a wide range of effects within the nervous system.

The “hallmark” laboratory finding associated with SSADH deficiency is elevated levels of GHB in the urine (i.e., 4-hydroxybutyric or gamma-hydroxybutyric aciduria), the liquid portion of the blood (plasma) and the fluid that flows through the brain and spinal canal (cerebrospinal fluid [CSF]).

Treatment is based on the symptoms that the affected person has and may include medication and supportive management.

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Synonyms

• 4-hydroxybutyric aciduria
• SSADH deficiency

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Signs & Symptoms

Symptoms can vary widely in range, severity and presentation, even among family members. Many of the neurological and neuromuscular symptoms are considered “nonspecific”, meaning they can be seen in other conditions, making diagnosis more challenging. Most affected people show some degree of developmental delays in childhood, particularly in physical, mental and behavioral skills.

The main symptoms in SSADH deficiency may include:

• Developmental delays:
  • Delays in motor milestones like:
    • Crawling
    • Sitting unaided
    • Walking without assistance
  • Reduced muscle tone (hypotonia)
  • Intellectual or language delays
• Coordination and movement issues can include:
  • Ataxia (difficulty coordinating voluntary movements) which:
    • May affect the trunk, arms, or legs
    • Is usually non-progressive and tends to improve with age
  • Seizures (episodes of uncontrolled electrical activity in the brain)
  • Speech and language delays that vary from person to person:
    • Severely affected individuals may be nonverbal or have limited speech.
    • Others may have normal speech and language development.
• Neuromuscular symptoms such as:
  • Decreased or absent reflexes (hyporeflexia or areflexia)
  • Increased muscle activity (hyperkinesis)
  • Choreoathetosis (less common movement disorder with:
    • Rapid, jerky movements (chorea)
    • Slow, writhing movements (athetosis)
• Behavioral issues that may include:
  • Irritability, agitation, or aggressive behavior
  • Obsessive-compulsive disorder (OCD)-like behaviors
  • Autistic-like behaviors including:
    • Impaired communication and social interaction
    • Withdrawal or ritualistic/repetitive behaviors like frequent rocking
• Additional symptoms can include:
  • Sleep issues:
    • Drowsiness (somnolence) in younger individuals
    • Hyperactivity or aggressive behavior in older individuals
  • Psychotic behaviors such as hallucinations (hearing or seeing things that aren’t there)
  • Eye abnormalities, including:
    • Rapid, rhythmic eye movements (nystagmus)
    • Difficulty coordinating eye movements (oculomotor apraxia)
    • Poor vision
  • Craniofacial differences such as an unusually small or large head (microcephaly or macrocephaly)

Some symptoms improve with age, such as non-progressive ataxia. Symptoms like drowsiness may be more common in younger individuals, while hyperactivity or aggressive behavior are more likely in older individuals.

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Causes

SSADH deficiency is caused by changes (variants) in the ALDH5A1 gene, which provides instructions for making the SSADH enzyme. This enzyme is responsible for breaking down succinic semialdehyde into less harmful substances. Because this enzyme doesn’t work properly, succinic semialdehyde builds up and gets converted into GHB (gamma-hydroxybutyric acid), leading to high levels of GHB and disrupted GABA (gamma-aminobutyric acid) metabolism.

These chemical imbalances contribute to the symptoms of SSADH deficiency, but researchers are still working to understand the exact roles that GABA and GHB play in this disorder.

GABA and GHB are neurotransmitters, which help nerve cells communicate by either stimulating or inhibiting nerve signals. Neurotransmitters modify or result in the transmission of nerve impulses from one nerve cell (neuron) to another, enabling neurons to communicate. More specifically, these natural chemicals either serve to trigger or inhibit the electrical activities of “targeted” neurons (i.e., excitatory or inhibitory neurons).

GABA is the main inhibitory neurotransmitter in the brain, meaning it helps to slow down nerve signals to prevent overstimulation.

GHB, which is formed from the breakdown of GABA, has wide effects on the brain and body, though its exact role isn’t fully understood. Individuals with SSADH deficiency have unusually elevated levels of GHB in urine, plasma and cerebrospinal fluid. In high amounts, GHB can cause sedation, low muscle tone (hypotonia) and even seizures. GHB is also used in certain medications, including treatment of sleep disorders such as narcolepsy, but it can have unwanted effects. Although there is evidence that it acts as a neurotransmitter, its specific functions in the brain remain unknown.

Studies have shown that younger individuals with relatively high GHB concentrations in bodily fluids may tend to be affected by drowsiness. In contrast, in older individuals with lower GHB concentrations, symptoms may tend to include abnormally increased activity or aggressive behaviors. Based upon such findings, some researchers suggest that GHB may act on inhibitory nerve cell (neuron) receptors at high concentrations and excitatory receptors at low concentrations (receptors are specific sites on the surface of a neuron that bind with neurotransmitters).

Furthermore, SSADH deficiency results in a decrease in GABA receptors in early life, also likely contributing to the shift towards more excitation.

Further research is required to learn more about GHB’s mode of action and to determine whether the neurological symptoms associated with SSADH deficiency result from increased accumulations of GHB, disturbances of GABA levels, a combination of both, or other abnormalities.

SSADH deficiency is an inborn error of metabolism that is inherited in an autosomal recessive pattern. “Metabolism” refers to all the chemical processes in the body, including the breakdown of complex substances into simpler ones (catabolism), usually with the release of energy, and processes in which complex substances are built up from simpler ones (anabolism), usually resulting in energy consumption. Inborn errors of metabolism result from abnormal functioning of a specific protein or enzyme that accelerates chemical activities in the body.

Recessive genetic disorders occur when an individual inherits a disease-causing gene variant from each parent. If an individual receives one normal gene and one disease-causing gene variant, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the gene variant and have an affected child is 25% with each pregnancy. The risk of having a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents is 25%. The risk is the same for males and females.

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Affected populations

SSADH deficiency appears to affect males and females relatively equally and has been reported worldwide. Since the disorder was originally described in 1981 about 450 patients have been identified as of 2020.

The exact prevalence is not known but according to a large support organization for this disease, Succinic Semialdehyde Dehydrogenase Deficiency Association, the prevalence is about 1 in 500,000. Because of the non-specific nature of the clinical features, the disorder may be often underdiagnosed. The most common presentation is during childhood, but rarely the onset of symptoms can occur in adolescence or adulthood.

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Disorders with Similar Symptoms

Symptoms of several conditions may be similar to those of SSADH deficiency. Comparisons may be useful for a differential diagnosis:

There are additional metabolic disorders that have been identified in which certain enzyme deficiencies result in disrupted metabolism of a neurotransmitter or neurotransmitters. These disorders include GTP cyclohydrolase I deficiency (dopa-responsive dystonia), aromatic L-amino acid decarboxylase deficiency and tyrosine hydroxylase deficiency. Although associated neurological and neuromuscular symptoms may vary, these disorders may have certain features that are similar to those associated with SSADH deficiency. Such abnormalities may include abnormally low muscle tone (hypotonia), delays in the acquisition of skills requiring the coordination of mental and physical activities (psychomotor delays), irritability and/or other symptoms and findings. Depending upon the specific metabolic defect(s) and other factors, the age at symptom onset may vary from early infancy to childhood.

Various genetic disorders including single gene disorders and chromosomal deletion syndromes may appear quite similar, especially when they lack other associated systemic or physical features.

Evidence suggests that there may be other currently unidentified metabolic disorders resulting in disrupted metabolism of neurotransmitters. There are additional disorders of infancy or childhood that may be characterized by abnormally diminished muscle tone (hypotonia), psychomotor delays, speech and language delays, intellectual disability, seizures and/or other symptoms and findings similar to those potentially associated with SSADH deficiency.

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Diagnosis

The diagnosis of SSADH deficiency is usually made after birth during infancy or childhood (or, in some people, adulthood), based upon a thorough clinical evaluation, identification of characteristic physical findings and a variety of specialized tests.

Due to the nonspecific nature and variability of associated symptoms, experts suggest that SSADH deficiency should be considered in any individuals with two or more features of intellectual, language, and motor delay and abnormally diminished muscle tone (hypotonia) of unknown cause (idiopathic).

Since the symptoms can vary and aren’t specific to just this condition, doctors recommend testing for SSADH deficiency if a person shows intellectual, language and motor delays along with low muscle tone (hypotonia) that can’t be explained by another cause.

Tests used to diagnose SSADH deficiency include:

• Urine test for 4-HBA:
  • One of the first steps in diagnosing SSADH deficiency is a urine test to look for high levels of 4-hydroxybutyric acid (4-HBA). This substance builds up in people with SSADH deficiency.
  • The test is done using a special process called gas chromatography-mass spectrometry, which helps detect these elevated levels. Increased levels of 4-HBA may also be found in the blood (plasma) or spinal fluid.
• Blood tests to check enzyme activity:
  • In addition to urine tests, doctors may check the activity of the SSADH enzyme in white blood cells (leukocytes). Lower-than-normal enzyme activity is a sign of SSADH deficiency.
• Genetic testing:
  • Genetic testing is becoming a common way to confirm SSADH deficiency. This involves checking for variants in both copies of the ALDH5A1 gene which cause the condition.
  • Genetic testing can be done through single-gene testing (focusing on just this one gene) or through a multigene panel, where multiple related genes are tested at once.

Imaging and brain scans should also be part of the diagnostic process and may include:

• MRI (magnetic resonance imaging):
  • Brain MRIs can show specific changes in people with SSADH deficiency. These include abnormal signals in certain parts of the brain, particularly the globus pallidus, an area involved in movement.
  • MRIs might also show changes in other brain areas like the brainstem, cerebellum and subthalamic nuclei. In some people, brain atrophy (shrinkage) can be seen.
• MRS (magnetic resonance spectroscopy):
  • A specialized scan called magnetic resonance spectroscopy (MRS) can measure levels of chemicals in the brain such as GABA. People with SSADH deficiency often have elevated levels of GABA and related compounds, which helps confirm the diagnosis.

• Brain activity testing:

• EEG (electroencephalography):
  • An EEG is a test that measures the brain’s electrical activity. In SSADH deficiency, EEG results often show slowed brain activity and seizure-like patterns (epileptiform abnormalities).
  • Some patients may experience generalized seizures or multifocal seizures, and in rare cases, the EEG may show a response to flashing lights (photoparoxysmal response) or seizures during sleep.

The diagnosis of SSADH deficiency involves a combination of these tests. The urine test for 4-HBA and genetic testing are key to confirming the condition. MRI and EEG help doctors understand how SSADH is affecting the brain and guide treatment. Early diagnosis can help improve treatment outcomes and provide families with the necessary support and care.

In some people, a diagnosis of SSADH deficiency may be suggested before birth (prenatally) by specialized tests. These include studies that may detect increased concentrations of 4-ydroxybutyric acid (GHB) in fluid surrounding the developing fetus (amniotic fluid) and deficient activity of the SSADH enzyme in certain fetal cells obtained via amniocentesis or chorionic villus sampling (CVS). During amniocentesis, a sample of fluid that surrounds the fetus is removed and analyzed, whereas CVS involves the removal of tissue samples from a portion of the placenta.

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Standard Therapies

Treatment
The treatment of SSADH deficiency is focused on addressing the specific symptoms that the affected person has. This approach often requires the coordinated efforts of a team of medical professionals including pediatricians, pediatric neurologists (specialists in neurological disorders in children) and other healthcare providers such as psychiatrists and allied health professionals including physical, occupational and speech therapists who can work to improve motor skills, communication and daily functioning.

Families require ongoing social support to help manage the challenges of living with SSADH deficiency. Social workers and community nurses are important for providing resources, coordinating care and ensuring patients have the support they need.

Although there is currently no curative treatment for SSADH deficiency, several symptomatic and supportive management options are available.

Seizure treatment may involve the use of certain anti-seizure medications (anticonvulsants) to prevent, reduce, or control seizures. Broad-spectrum anticonvulsants are recommended. The medication vigabatrin should be avoided due to the side effects and sodium valproate should not be used because it inhibits the SSADH enzyme, except in people whose seizures do not improve with other medication. Treatment must be individualized.

Neurobehavioral symptoms such as anxiety, depression and behavioral disorders are commonly treated with a variety of medication including:

• Antidepressants such as fluoxetine
• Anti-anxiety medications Including benzodiazepines
• Antipsychotics such as risperidone
• Cerebral stimulants such as methylphenidate, used to manage behavioral symptoms

Early intervention is critical for children with SSADH deficiency to ensure they reach their full developmental potential. Beneficial services may include:

• Physical therapy
• Occupational therapy
• Speech therapy
• Remedial education and other social or vocational services

SSADH deficiency is a lifelong genetic disorder and as the affected person ages, the symptoms and complications of this condition tend to change and, in many cases, worsen. Compulsive behavior, sleep disturbances and seizures become more prominent during adolescence and adulthood.

One of the serious risks for adults with SSADH deficiency is SUDEP (sudden unexpected death in epilepsy), which highlights the importance of closely monitoring epilepsy as affected people grow older. This disorder often leads to a progressive decline in neurological function, with worsening epilepsy, neuropsychiatric issues and sleep problems as individuals age.

The main complications include:

• Seizures that can become more frequent or severe with age
• Neuropsychiatric problems including anxiety, compulsive behaviors and sleep disturbances
• SUDEP in adult patients

The earlier SSADH deficiency is identified and treated, the better the outcomes. Early diagnosis and proactive treatment can help reduce complications like SUDEP and improve overall quality of life. Regular monitoring and timely treatment adjustments are essential to managing the progression of the disorder.

Genetic counseling is recommended for affected individuals and their families to help them understand the inheritance pattern and future risks.

The Succinic Semialdehyde Dehydrogenase Deficiency Association offers information for patients, families and physicians interested in obtaining clinical and/or therapeutic information on SSADH deficiency.  See also their parent guide. The publication Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency is the result of an effort of an SSADHD Consensus Group to consolidate and unify the optimal care that can be provided to individuals with SSADHD.

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Clinical Trials and Studies

Vigabatrin is an anti-seizure medication that decreases the formation of succinic semialdehyde and is, in theory, an exciting treatment option for SSADH deficiency. However, clinical experience has been mixed.

Several other potential therapies are being studied including:

• GABA and GHB receptor antagonists
• mTOR inhibitors
• Enzyme replacement therapy and gene therapy which are seen as promising options for the future
• Gene editing technologies such as CRISPR-Cas9are being explored as potential treatments in the coming years

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov.
All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:
Toll-free: (800) 411-1222
TTY: (866) 411-1010
Email: [email protected]

Some current clinical trials also are posted on the following page on the NORD website:
https://rarediseases.org/living-with-a-rare-disease/find-clinical-trials/

For information about clinical trials sponsored by private sources, in the main, contact:
www.centerwatch.com

For more information about clinical trials conducted in Europe, contact:
https://www.clinicaltrialsregister.eu/

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References

TEXTBOOKS
Pearl PL and Gibson KM. Succinic Semialdehyde Dehydrogenase Deficiency. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:499.

JOURNAL ARTICLES
Tokatly Latzer I, Bertoldi M, Blau N, et al. Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency. Mol Genet Metab. 2024;142(1):108363. doi:10.1016/j.ymgme.2024.108363

Didiášová M, Banning A, Brennenstuhl H, Jung-Klawitter S, Cinquemani C, Opladen T, Tikkanen R. Succinic semialdehyde dehydrogenase deficiency: an update. Cells. 2020 Feb 19;9(2):477. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7072817/

DiBacco ML, Roullet JB, Kapur K, et al. Age-related phenotype and biomarker changes in SSADH deficiency. Ann Clin Transl Neurol. 2018;6:114-120.

Vogel KR, Ainslie GR, Gibson KM. mTOR inhibitors rescue premature lethality and attenuate dysregulation of GABAergic/glutamatergic transcription in murine succinate semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism. J Inherit Metab Dis. 2016 Nov;39(6):877-886.

Schreiber JM, Pearl PL, Dustin I, Wiggs E, Barrios E, Wassermann EM, Gibson KM, Theodore WH. Biomarkers in a taurine trial for succinic semialdehyde dehydrogenase deficiency. JIMD Rep. 2016;30:81-87.

Pearl PL, Schreiber J, Theodore WH, McCarter R, Barrios ES, Tyu J, Wiggs E, He J, Gibson KM. Taurine trial in succinic semialdehyde dehydrogenase deficiency and elevaed CNS GABA. Neurology. 2014 Mar 18;82(11):940-944.

Epilepsy in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism. Brain Dev. 2011 Oct;33(9):796-805.

Pearl PL, Gibson KM, Quezado Z, Dustin I, Taylor J, Trzcinski S, Schreiber J, Forester K, Reeves-Tyer P, Liew C, Shamim S, Herscovitch P, Carson R, Butman J, Jakobs C, Theodore W. Decreased GABA-A binding on FMZ-PET in succinic semialdehyde dehydrogenase deficiency. Neurology. 2009 Aug 11;73(6):423-429.

Pearl PL, et al., Succinic semialdehyde dehydrogenase deficiency in children and adults. Ann Neurol. 2003;54:S73-80.
Gropman A, Vigabatrin and newer interventions in succinic semialdehyde dehydrogenase deficiency. Ann Neurol. 2003;54:S66-72.

Gupta M, Greven R, Jansen EE, et al. Therapeutic intervention in mice deficient for succinate semialdehyde dehydrogenase (gamma hydroxybutyric aciduria). J PharmacolExpTher. 2002;302:180-87.

Hogema BM, Gupta M, Senephransiri H, et al. Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenase. Nat Genet. 2001;29:212-16.

Hogema BM, Akaboshi S, Taylor M, et al. Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolic analyses. Mol Genet Metab. 2001;72:218-22.

Peters H, Cleary M, Boneh A. Succinic semialdehyde dehydrogenase deficiency in siblings: clinical heterogeneity and response to early treatment. J Inherit Metab Dis. 1999;22:198-199.

Gibson KM, Sweetman L, Kozich V, et al. Unusual enzyme findings in five patients with metabolic profiles suggestive of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria). J Inherit Metab Dis. 1998;21:255-261.

Chambliss KL, Hinson DD, Trettel F, et al. Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria). Am J Hum Genet. 1998;63:399-408.

Gibson KM, Doskey AE, Rabier D, et al. Differing clinical presentation of succinic semialdehyde dehydrogenase deficiency in adolescent siblings from Lifu Island, New Caledonia. J Inherit Metab Dis. 1997;20:370-374.

Gibson KM, Christensen E, Jakobs C, et al. The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients. Pediatrics. 1997;99:567-574.

Trettel F, Malaspina P, Jodice C, et al. Human succinic semialdehyde dehydrogenase: molecular cloning and chromosomal localization. AdvExp Med Biol. 1997;414:253-260.

Matern D, Lehnert W, Gibson KM, et al. Seizures in a boy with succinic semialdehyde dehydrogenase deficiency treated with vigabatrin (gamma-vinyl-GABA). J Inherit Metab Dis. 1996;19:313-318.

Peters H, Cleary M, Boneh A. Succinic semialdehyde dehydrogenase deficiency in siblings: clinical heterogeneity and response to early treatment. J Inherit Metab Dis. 1999;22:198-199.

Gibson KM, Hoffmann GF, Hodson AK, et al. 4-Hydroxybutyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn error of GABA metabolism. Neuropediatrics. 1998;29:14-22.

Gibson KM, Sweetman L, Kozich V, et al. Unusual enzyme findings in five patients with metabolic profiles suggestive of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria). J Inherit Metab Dis. 1998;21:255-261.

Chambliss KL, Hinson DD, Trettel F, et al. Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria). Am J Hum Genet. 1998;63:399-408.

Gibson KM, Doskey AE, Rabier D, et al. Differing clinical presentation of succinic semialdehyde dehydrogenase deficiency in adolescent siblings from Lifu Island, New Caledonia. J Inherit Metab Dis. 1997;20:370-374.

Gibson KM, Christensen E, Jakobs C, et al. The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients. Pediatrics. 1997;99:567-574.

Trettel F, Malaspina P, Jodice C, et al. Human succinic semialdehyde dehydrogenase: molecular cloning and chromosomal localization. AdvExp Med Biol. 1997;414:253-260.

Matern D, Lehnert W, Gibson KM, et al. Seizures in a boy with succinic semialdehyde dehydrogenase deficiency treated with vigabatrin (gamma-vinyl-GABA). J Inherit Metab Dis. 1996;19:313-318.

Jakobs C, Ogier H, Rabier D, et al. Prenatal detection of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria) [letter]. Prenatal Diag. 1993;13:150.

INTERNET
Pearl PL, Wiwattanadittakul N, Roullet JB, et al. Succinic Semialdehyde Dehydrogenase Deficiency. 2004 May 5 [Updated 2016 Apr 28]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1195/ Accessed Oct 2, 2024.

Sergi C, Parayil Sankaran B. Succinic Semialdehyde Dehydrogenase Deficiency. [Updated 2023 Aug 8]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK560724/ Accessed Oct 2, 2024.

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Patient Organizations

SSADH Association

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Email: [email protected]

Related Rare Diseases: Succinic Semialdehyde Dehydrogenase Deficiency

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The Arc

Phone: 202-534-3700 Email: [email protected] Fax: 202-534-3731

Related Rare Diseases: Phelan-McDermid Syndrome, MEF2C Deficiency, Cerebral Folate Deficiency, ...

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Epilepsy Foundation

Phone: 866-330-2718 Email: [email protected] Fax: 877-687-4878

Related Rare Diseases: MEF2C Deficiency, KCNB1 Encephalopathy, Arginine: Glycine Amidinotransferase Deficiency, ...

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11q Research and Resource Group

Phone: 404-428-8440 Email: [email protected]

Related Rare Diseases: Succinic Semialdehyde Dehydrogenase Deficiency, Chromosome 11, Partial Monosomy 11q, Síndrome de Jacobsen (monosomía parcial 11q) ...

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SSADH Association (Succinic Semialdehyde Dehydrogenase Deficiency)

Phone: 262-646-5133 Email: [email protected]

Related Rare Diseases: Succinic Semialdehyde Dehydrogenase Deficiency

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More Information

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

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OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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