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Once in a Blue Moon, a Very Rare Coexistence of Glutaric Acidemia Type I and Mucopolysaccharidosis Type Iiib in a Patient Publisher Pubmed



Alaei MR1 ; Kheirkhahan M2 ; Talebi S2, 3 ; Davoudidehaghani E4 ; Keramatipour M2
Authors
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Authors Affiliations
  1. 1. Department of Pediatric Endocrinology and Metabolism, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  2. 2. Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
  3. 3. Department of Medical Genetics and Molecular Biology, Faculty of Medicine, Iran University of Medical Sciences, Tehran, Iran
  4. 4. Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran

Source: Iranian Biomedical Journal Published:2020


Abstract

Background: GAI and MPSIIIB are two rare genetic disorders caused by pathogenic variants in two different genes. Here, we report a coexistence of these two different rare disorders in an individual. Methods: A four-year-old Iranian boy born to first-cousin parents suspected to have MPSIIIB and/or GAI was investigated in this study. Targeted genomic enrichment and NGS were used to examine genes related to MPS and GA. Sanger sequencing was performed to confirm the results. Results: Two homozygous likely pathogenic variants in NAGLU and GCDH genes were found and confirmed in the proband. Conclusion: A combination of specific features of two different diseases in a patient has been reported here. More studies on this case and similar cases can provide more information about the effect of simultaneous pathogenic variants in different genes. DOI: 10.29252/ibj.24.3.201. © 2020, Pasteur Institute of Iran. All rights reserved.
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