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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Succinic semialdehyde dehydrogenase deficiency


Other Names for this Disease
  • 4-hydroxybutyric aciduria
  • GABA metabolic defect
  • Gamma-hydroxybutyricaciduria
  • SSADH deficiency
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Inheritance


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How is succinic semialdehyde dehydrogenase deficiency inherited?

Succinic semialdehyde dehydrogenase deficiency (SSADH) is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.[1]
Last updated: 9/25/2013

References
  1. Succinic semialdehyde dehydrogenase deficiency. Genetics Home Reference. June 2008; http://ghr.nlm.nih.gov/condition/succinic-semialdehyde-dehydrogenase-deficiency. Accessed 9/25/2013.