Objective: The aim of this study was to detect potential gene mutation of Methylmalonic acidemia (MAA) in a Chinese patient.
Methods: Patient with clinical diagnosis and parents were analyzed in this study. The analysis included medical histories, clinical analysis, and genetic tests. A NGS panel include MUT,MMAA,MMAB,MMADHC and MCEE genes was identify the pathogenic mutation responsible for the MAA and verified by Sanger.
Results: A compound heterozygote mutation c.571C>T(p.R191W) and c.539C>G(p.S180W) of the MMAB gene was found in the patient, and inherit from his father and mother. The same mutations were not found among 100 healthy controls.
Conclusion: A compound heterozygote mutation c.571C>T(p.R191W) and c.539C>G(p.S180W) of the MMAB gene mutation can be a cause of Cb1b MAA in Chinese. We think that genetic studies to may assist in making Cb1b MAA diagnosis and providing the consultant for their families.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology