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Metabolic Brain Disease

, Volume 31, Issue 3, pp 573–577 | Cite as

Novel mutation in an Egyptian patient with infantile Canavan disease

  • Osama K. Zaki
  • Heba S. El Abd
  • Shaimaa A. Mohamed
  • Hatem Zayed
Original Article

Abstract

Canavan disease (CD) is a rare fatal childhood neurological autosomal recessive genetic disease caused by mutations in the ASPA gene, which lead to catalytic deficiency of the ASPA enzyme that catalyzes the deacetylation of NAA. It is a severe progressive leukodystrophy characterized by spongiform degeneration of the white matter of the brain. CD occurs frequently among Ashkenazi Jewish population, however it has been reported in many other ethnic groups with significantly lower frequency. Here, we report on a 2 year-old Egyptian child with severe CD who harbors a novel homozygous missense variant (c.91G > T, p.V31F) in the ASPA gene. The clinical, radiological, and molecular genetic profiles are reviewed in details.

Keywords

Canavan disease Aspartoacylase N-acetyl-aspartate MRI MRS 

Notes

Acknowledgments

Hatem Zayed is supported by the Qatar University grant QUUG-CAS-DHS-14/15-3.

Compliance with ethical standards

Conflict of interest

All author declare that they have no conflict of interest.

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Copyright information

© Springer Science+Business Media New York 2015

Authors and Affiliations

  1. 1.Medical Genetics Unit, Pediatric Department, Faculty of MedicineAin-Shams UniversityCairoEgypt
  2. 2.Department of Radiodiagnosis, Faculty of MedicineAin-Shams UniversityCairoEgypt
  3. 3.Department of Health Sciences, Biomedical ProgramQatar UniversityDohaQatar

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