Volume 24, Issue 3 (5-2020)                   IBJ 2020, 24(3): 201-205 | Back to browse issues page

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Alaei M R, Kheirkhahan M, Talebi S, Davoudi-Dehaghani E, Keramatipour M. Once in a Blue Moon, a Very Rare Coexistence of Glutaric Acidemia Type I and Mucopolysaccharidosis Type IIIB in a Patient. IBJ. 2020; 24 (3) :201-205
URL: http://ibj.pasteur.ac.ir/article-1-2966-en.html
Background: 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. 
Type of Study: Case Report | Subject: Molecular Genetics & Genomics

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