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

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 fi...

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Main Authors:	Mohammad Reza Alaei, Meghdad Kheirkhahan, Saeed Talebi, Elham Davoudi-Dehaghani, Mohammad Keramatipour
Format:	Article
Language:	English
Published:	Pasteur Institute of Iran 2020-05-01
Series:	Iranian Biomedical Journal
Subjects:	genes iran mucopolysaccharidoses
Online Access:	http://ibj.pasteur.ac.ir/article-1-2966-en.html

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record_format	Article
spelling	doaj-ba7156e1937042eb86abcf49a05825142020-11-25T02:00:30ZengPasteur Institute of IranIranian Biomedical Journal1028-852X2008-823X2020-05-01243201205Once in a Blue Moon, a Very Rare Coexistence of Glutaric Acidemia Type I and Mucopolysaccharidosis Type IIIB in a PatientMohammad Reza Alaei0Meghdad Kheirkhahan1Saeed Talebi2Elham Davoudi-Dehaghani3Mohammad Keramatipour4 Department of Pediatric Endocrinology and Metabolism, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran 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.http://ibj.pasteur.ac.ir/article-1-2966-en.htmlgenesiranmucopolysaccharidoses
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Mohammad Reza Alaei Meghdad Kheirkhahan Saeed Talebi Elham Davoudi-Dehaghani Mohammad Keramatipour
spellingShingle	Mohammad Reza Alaei Meghdad Kheirkhahan Saeed Talebi Elham Davoudi-Dehaghani Mohammad Keramatipour Once in a Blue Moon, a Very Rare Coexistence of Glutaric Acidemia Type I and Mucopolysaccharidosis Type IIIB in a Patient Iranian Biomedical Journal genes iran mucopolysaccharidoses
author_facet	Mohammad Reza Alaei Meghdad Kheirkhahan Saeed Talebi Elham Davoudi-Dehaghani Mohammad Keramatipour
author_sort	Mohammad Reza Alaei
title	Once in a Blue Moon, a Very Rare Coexistence of Glutaric Acidemia Type I and Mucopolysaccharidosis Type IIIB in a Patient
title_short	Once in a Blue Moon, a Very Rare Coexistence of Glutaric Acidemia Type I and Mucopolysaccharidosis Type IIIB in a Patient
title_full	Once in a Blue Moon, a Very Rare Coexistence of Glutaric Acidemia Type I and Mucopolysaccharidosis Type IIIB in a Patient
title_fullStr	Once in a Blue Moon, a Very Rare Coexistence of Glutaric Acidemia Type I and Mucopolysaccharidosis Type IIIB in a Patient
title_full_unstemmed	Once in a Blue Moon, a Very Rare Coexistence of Glutaric Acidemia Type I and Mucopolysaccharidosis Type IIIB in a Patient
title_sort	once in a blue moon, a very rare coexistence of glutaric acidemia type i and mucopolysaccharidosis type iiib in a patient
publisher	Pasteur Institute of Iran
series	Iranian Biomedical Journal
issn	1028-852X 2008-823X
publishDate	2020-05-01
description	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.
topic	genes iran mucopolysaccharidoses
url	http://ibj.pasteur.ac.ir/article-1-2966-en.html
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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

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