Title of article
Once in a Blue Moon, a Very Rare Coexistence of Glutaric Acidemia Type I and Mucopolysaccharidosis Type IIIB in a Patient
Author/Authors
Alaei, Mohammad Reza Department of Pediatric Endocrinology and Metabolism - Mofid Children's Hospital - Shahid Beheshti University of Medical Sciences, Tehran, Iran , Kheirkhahan, Meghdad Department of Medical Genetics - School of Medicine - Tehran University of Medical Sciences, Tehran, Iran , Talebi, Saeed Department of Medical Genetics - School of Medicine - Tehran University of Medical Sciences, Tehran, Iran , Davoudi -Dehaghani, Elham Department of Molecular Medicine - Biotechnology Research Center - Pasteur Institute of Iran, Tehran, Iran , Keramatipour, Mohammad Department of Medical Genetics - School of Medicine - Tehran University of Medical Sciences, Tehran, Iran
Pages
5
From page
201
To page
205
Abstract
Glutaric acidemia (GAI) and mucopolysaccharidosis type IIIB (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 next-generation sequencing 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 α-N-acetylglucosaminidase (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.
Keywords
Mucopolysaccharidoses , Genes , Iran
Journal title
Iranian Biomedical Journal(IBJ)
Serial Year
2020
Record number
2643460
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