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

Alaei, Mohammad Reza; Kheirkhahan, Meghdad; Talebi, Saeed; Davoudi-Dehaghani, Elham; Keramatipour, Mohammad

doi:10.29252/ibj.24.3.201

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

Authors

Mohammad Reza Alaei ¹

Meghdad Kheirkhahan ²

Saeed Talebi ²

Elham Davoudi-Dehaghani ³

Mohammad Keramatipour ²

¹ Department of Pediatric Endocrinology and Metabolism, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran

² Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran

³ Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran

10.29252/ibj.24.3.201

Abstract

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.

Keywords

genes

Iran

Mucopolysaccharidoses