摘要
Abstract
Objective To investigate clinical characteristics of methylmalonic acidemia ( MMA ) parentage MUT gene. Methods Clinical data of 1 patient with simple MMA and condition of parentage MUT gene mutation was retrospective-ly analyzed. Results A male neonate with 52 d old was the third child by the third births, and his parents were not consan-guineous marriage. The first child was a full-term delivery girl, and she died the 7th d after birth, acidosis was suspected at that time without tests for genetic and metabolic diseases. The second child was also a full-term delivery girl with healthy. The third child had convulsion at the postnatal 36th d, and the symptom was relieved after continue 10 minutes. He visited in local hospital, and he was in comatose state when he had been admitted with severe metabolic acidosis, and the consultation with our hospital was required. Genetic metabolic disease was highly suspected, and screening for genetic metabolic diseases was performed by drawing blood and remaining urine in emergency department, and treatments such as vitamin B12 and Levocarni-tine were given simultaneously. Screening result for genetic metabolic diseases supported the diagnosis of MMA, and the above treatments were continued, and then the neonate was discharged after having stable condition. After discharging, the parents stopped using the drug and special milk powder without doctors's authorization, and the neonate had coma again at the 20th d after discharging, and the family members gave up treatment, and then the neonate died a few days later. Related gene high-throughput sequencing was performed for the neonate and the neonatal parents and sister, and then the missense mutation (c. 1106G>A) was detected in the neonatal father;heterozygosis mutation (c. 729730insTT) was detected in the neonatal mother. Conclusion Gene sequencing helps to confirm clinical MMA classification, and it gives prepare for prenatal diagno-sis to avoid defects in children born.关键词
甲基丙二酸血症/甲基丙二酸单酰CoA变位酶/突变Key words
Methylmalonic acidemia/Methylmalonyl-CoA mutase/Mutation分类
医药卫生
