Important It is possible that the main title of the report Succinic Semialdehyde Dehydrogenase Deficiency is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare inborn error of metabolism that is inherited as an autosomal recessive trait. In individuals with the disorder, deficient activity of the SSADH enzyme disrupts 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 leads to abnormal accumulation of the compound succinic semialdehyde, which is reduced or converted to 4-hydroxybutyric acid, also known as GHB (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]).
SSADH deficiency leads to various neurological and neuromuscular symptoms and findings. These abnormalities may be extremely variable from case to case, including among affected members of the same families (kindreds). However, most individuals with SSADH deficiency are affected by mild to severe mental retardation, delays in the acquisition of skills requiring the coordination of mental and physical activities (psychomotor retardation), and delays in language and speech development. In addition, in some cases, 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.
Children Living with Inherited Metabolic Diseases (CLIMB) Climb Building 176 Nantwich Road Crewe, Intl CW2 6BG United Kingdom Tel: 0845 241 2174 Tel: 800 652 3181 Email: email@example.com Internet: http://www.CLIMB.org.uk
March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 Tel: (914)997-4488 Fax: (914)997-4763 Tel: (888)663-4637 Email: Askus@marchofdimes.com Internet: http://www.marchofdimes.com
The Arc 1660 L Street, NW, Suite 301 Washington, DC 20036 Tel: (202)534-3700 Fax: (202)534-3731 Tel: (800)433-5255 TDD: (817)277-0553 Email: firstname.lastname@example.org Internet: http://www.thearc.org
Epilepsy Foundation 8301 Professional Place Landover, MD 20785 Tel: (301)459-3700 Fax: (301)577-2684 Tel: (800)332-1000 TDD: (800)332-2070 Email: email@example.com Internet: http://www.epilepsyfoundation.org
NIH/National Institute of Diabetes, Digestive & Kidney Diseases Office of Communications & Public Liaison Bldg 31, Rm 9A06 31 Center Drive, MSC 2560 Bethesda, MD 20892-2560 Tel: (301)496-3583 Email: NDDIC@info.niddk.nih.gov Internet: http://www2.niddk.nih.gov/
NIH/National Institute of Neurological Disorders and Stroke P.O. Box 5801 Bethesda, MD 20824 Tel: (301)496-5751 Fax: (301)402-2186 Tel: (800)352-9424 TDD: (301)468-5981 Email: firstname.lastname@example.org Internet: http://www.ninds.nih.gov/
NIH/National Institute of Child Health and Human Development 31 Center Dr Building 31, Room 2A32 MSC2425 Bethesda, MD 20892 Fax: (866)760-5947 Tel: (800)370-2943 TDD: (888)320-6942 Email: NICHDInformationResourceCenter@mail.nih.gov Internet: http://www.nichd.nih.gov/
Pediatric Neurotransmitter Disease Association PO Box 180622 498 Lillian Court Delafield, WI 53018 Tel: (603)733-8409 Fax: (516)937-0049 Email: email@example.com Internet: http://www.pndassoc.org
Genetic and Rare Diseases (GARD) Information Center PO Box 8126 Gaithersburg, MD 20898-8126 Tel: (301)251-4925 Fax: (301)251-4911 Tel: (888)205-2311 TDD: (888)205-3223 Internet: http://rarediseases.info.nih.gov/GARD/
Madisons Foundation PO Box 241956 Los Angeles, CA 90024 Tel: (310)264-0826 Fax: (310)264-4766 Email: firstname.lastname@example.org Internet: http://www.madisonsfoundation.org
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email email@example.com
Last Updated: 4/25/2008 Copyright 2000, 2002, 2003 National Organization for Rare Disorders, Inc.
How this information was developed to help you make better health decisions.
Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated.