Succinic semialdehyde dehydrogenase deficiency

Common Name(s)

Succinic semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency

Succinic semialdehyde dehydrogenase (SSADH) deficiency is 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 intellectual disability; developmental delay (especially involving speech); hypotonia; difficulty coordinating movements (ataxia); and/or seizures. Some affected individuals may also have decreased reflexes (hyporeflexia); nystagmus; hyperactivity; and/or behavioral problems. SSADH deficiency is caused by mutations in the ALDH5A1 gene and is inherited in an autosomal recessive manner.  Management is generally symptomatic and typically focuses on treating seizures and neurobehavioral issues.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Succinic semialdehyde dehydrogenase deficiency" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Succinic semialdehyde dehydrogenase deficiency" returned 10 free, full-text research articles on human participants. First 3 results:

Quantitation of gamma-hydroxybutyric acid in dried blood spots: feasibility assessment for newborn screening of succinic semialdehyde dehydrogenase (SSADH) deficiency.
 

Author(s): Sabrina Forni, Phillip L Pearl, K Michael Gibson, Yuezhou Yu, Lawrence Sweetman

Journal: Mol. Genet. Metab.. 2013 Jul;109(3):255-9.

 

SSADH deficiency, the most prevalent autosomal recessive disorder of GABA degradation, is characterized by elevated gamma-hydroxybutyric acid (GHB). Neurological outcomes may be improved with early intervention and anticipatory guidance. Morbidity has been compounded by complications, ...

Last Updated: 17 Jun 2013

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Cerebellar atrophy in human and murine succinic semialdehyde dehydrogenase deficiency.
 

Author(s): Maria T Acosta, Jeeva Munasinghe, Phillip L Pearl, Maneesh Gupta, Andrey Finegersh, K Michael Gibson, William H Theodore

Journal: J. Child Neurol.. 2010 Dec;25(12):1457-61.

 

Human succinic semialdehyde dehydrogenase deficiency, an autosomal recessive disorder of γ-aminobutyric acid (GABA) catabolism, was modeled by a murine model sharing the phenotype of ataxia and seizures. Magnetic resonance imaging (MRI) with volumetry was obtained on 7 patients versus ...

Last Updated: 14 Dec 2010

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Neuropathology in succinic semialdehyde dehydrogenase deficiency.
 

Author(s): Ina Knerr, K Michael Gibson, Geoffrey Murdoch, Gajja S Salomons, Cornelis Jakobs, Susan Combs, Phillip L Pearl

Journal: Pediatr. Neurol.. 2010 Apr;42(4):255-8.

 

Reported here is the novel finding of neuropathology in a patient with succinic semialdehyde dehydrogenase deficiency, an inherited disorder of gamma-aminobutyric acid metabolism characterized by intellectual deficiency, hypotonia, and epilepsy, with 4-hydroxybutyric aciduria and ...

Last Updated: 22 Mar 2010

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Succinic semialdehyde dehydrogenase deficiency" returned 2 free, full-text review articles on human participants. First 3 results:

[Succinic semialdehyde dehydrogenase deficiency].
 

Author(s): Xiao-Lu Deng, Fei Yin, Qiu-Lian Xiang, Chen-Tao Liu, Jing Peng

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2011 Sep;13(9):740-2.

 

Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal recessive disorder. This paper reports three cases of SSADH deficiency in infants. The infants developed the symptoms including developmental delay, intellectual disability, hypotonia, hyporeflexia and seizures. ...

Last Updated: 19 Sep 2011

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Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men.
 

Author(s): P L Pearl, K M Gibson, M A Cortez, Y Wu, O Carter Snead, I Knerr, K Forester, J M Pettiford, C Jakobs, W H Theodore

Journal: J. Inherit. Metab. Dis.. 2009 Jun;32(3):343-52.

 

Succinic semialdehyde dehydrogenase (SSADH) deficiency, a disorder of GABA degradation with subsequent elevations in brain GABA and GHB, is a neurometabolic disorder with intellectual disability, epilepsy, hypotonia, ataxia, sleep disorders, and psychiatric disturbances. Neuroimaging ...

Last Updated: 27 May 2009

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Phase 2 Clinical Trial of SGS-742 Therapy in Succinic Semialdehyde Dehydrogenase Deficiency
 

Status: Recruiting

Condition Summary: Metabolic Disease; Seizures

 

Last Updated: 21 Mar 2014

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