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Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency

JIMD Reports, Volume 34, 2017, Vol.34, p.111-115 [Peer Reviewed Journal]

Society for the Study of Inborn Errors of Metabolism (SSIEM) 2016 ;ISSN: 2192-8304 ;ISBN: 9783662555859 ;ISBN: 3662555859 ;EISSN: 2192-8312 ;EISBN: 9783662555866 ;EISBN: 3662555867 ;DOI: 10.1007/8904_2016_14 ;PMID: 27815844

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  • Title:
    Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency
  • Author: Attri, Savita Verma ; Singhi, Pratibha ; Wiwattanadittakul, Natrujee ; Goswami, Jyotindra N. ; Sankhyan, Naveen ; Salomons, Gajja S. ; Roullett, Jean-Baptiste ; Hodgeman, Ryan ; Parviz, Mahsa ; Gibson, K. Michael ; Pearl, Phillip L.
  • Is Part Of: JIMD Reports, Volume 34, 2017, Vol.34, p.111-115
  • Description: The incidence of succinic semialdehyde dehydrogenase (SSADH) deficiency, an autosomal recessive inherited disorder of GABA degradation, is unknown. Upon a recent diagnosis of a new family of affected fraternal twins from the Punjabi ethnic group of India, case ascertainment from the literature and our database was done to determine the number of confirmed cases along with their geographic distribution. The probands presented with global developmental delay, infantile onset epilepsy, and a persistent neurodevelopmental disorder upon diagnosis at 10 years of age with intellectual disability, expressive aphasia, and behavioral problems most prominent for hyperactivity. Gamma-hydroxybutyric aciduria and homozygous ALDH5A1 c.608C>T; p.Pro203Leu mutations were confirmed. Identification of all available individual cases with clinical details available including geographic or ethnic origin revealed 182 patients from 40 countries, with the largest number of patients reported from the USA (24%), Turkey (10%), China (7%), Saudi Arabia (6%), and Germany (5%). This study provides an accounting of all published cases of confirmed SSADH deficiency and provides data useful in planning further studies of this rare inborn error of metabolism.
  • Publisher: Berlin, Heidelberg: Springer Berlin Heidelberg
  • Language: English
  • Identifier: ISSN: 2192-8304
    ISBN: 9783662555859
    ISBN: 3662555859
    EISSN: 2192-8312
    EISBN: 9783662555866
    EISBN: 3662555867
    DOI: 10.1007/8904_2016_14
    PMID: 27815844
  • Source: GFMER Free Medical Journals
    PubMed Central
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