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Succinic semialdehyde dehydrogenase (SSADH) deficiency: Molecular analysis in a South American family

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Journal of Inherited Metabolic Disease

Summary

We report the clinical, biochemical and molecular findings on the first documented patient with 4-hydroxybutyric aciduria (4-HBA, McKusick 271980) from Uruguay. The patient displayed a severe picture and turned out to be homozygous for a mutation (c.1226G < A) previously shown to be associated with null enzyme activity.

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Authors and Affiliations

  1. Medical Genetics Institute, Italian Hospital, Montevideo, Uruguay

    Aida Lemes & Roberto Quadrelli

  2. Department of Biology, Tor Vergata University, Via della Ricerca Scientifica, I-00133, Rome, Italy

    Paola Blasi, Andrea Novelletto & Patrizia Malaspina

  3. Neuropediatric Service, Pereira Rossell Children’s Hospital, Montevideo, Uruguay

    Gabriel Gonzales & Maria E. Russi

Authors
  1. Aida Lemes
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  2. Paola Blasi
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  3. Gabriel Gonzales
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  4. Maria E. Russi
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  5. Roberto Quadrelli
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  6. Andrea Novelletto
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  7. Patrizia Malaspina
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Corresponding author

Correspondence to Patrizia Malaspina.

Additional information

Communicating editor: Verena Peters

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Lemes, A., Blasi, P., Gonzales, G. et al. Succinic semialdehyde dehydrogenase (SSADH) deficiency: Molecular analysis in a South American family. J Inherit Metab Dis 29, 587 (2006). https://doi.org/10.1007/s10545-006-0277-0

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  • DOI: https://doi.org/10.1007/s10545-006-0277-0

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