Screening,diagnosis and clinical phenotype analysis of mut type methylmalonic academia
Objective To understand the significance of tandem mass spectrometry in screening neonatal methyl-malonic acid(MMA),and evaluate the incidence of methylmalonyl coenzyme A mutase deficiency(mut type)MMA disease in the local area.Methods MMA screening was performed on locally newborns born from October 2013 to July 2023 using tan-dem mass spectrometry technology,and the mut type of MMA disease was evaluated.Results The concentrations of blood free carnitine(C0),propionyl carnitine(C3),propionyl carnitine/free carnitine(C3/C0),propionycarnitine/acetylcarnitine(C3/C2)and other indicators children were abnormal of simple type MMA(MMUT mutation)neonatal.Nine types of mutations were detected in the MMUT gene:c.1106G>A,c.729_730insTT,c.613G>A,c.1741C>T,c.967A>G,c.1280G>A,c.2179C>T,c.1159A>C,c.914T>C.Conclusion mut type MMA remains a disease of poor prognosis.Combined prevention at the first,second,and third levels can be beneficial to early diagnose and treatment,and reduce the disability rate.