title: [Analysis of MUT gene mutations in a patient with isolated methylmalonic acidemia].
abstract: OBJECTIVE
  To analyze the clinical features and mutation of MUT gene in a Chinese patient with isolated methylmalonic acidemia.
  
  
  METHODS
  The clinical characteristics and laboratory tests data were collected. Genomic DNA was extracted from peripheral blood leukocytes. The 13 exons and their flanking sequences of the MUT gene were amplified with polymerase chain reaction and subjected to direct DNA sequencing.
  
  
  RESULTS
  The patient has featured failure to thrive, lethargy, seizure, hypotonia, severe ketoacidosis and hyperammonemia. Tandem mass results showed reduction of multiple acylcarnitine. Urine organic acid testing showed pronounced increase in methylmalonate excretion. Homocysteine was normal. The patient showed no response to vitamin B12 treatment. The above results suggested that the patient had isolated methylmalonic acidemia. DNA sequencing analysis confirmed that the patient has carried two MUT gene mutations, c.755dupA and a novel mutation c.944dupT.
  
  
  CONCLUSIONS
  Inherited metabolic disease screening plays an important role in the diagnosis of clinical diseases. However, to confirm the results will need gene mutation analysis.
authors: Department of Endocrinology, Dongguan People's Hospital, Dongguan, Guangdong 523059, P.R. China. wenpq@outlook.com.
authors: Zhanling
authors: Z
authors: Chen
authors: Xiuwei
authors: X
authors: Zhang
authors: Jianrong
authors: J
authors: Huang
authors: Pengqiang
authors: P
authors: Wen
authors: Guobing
authors: G
authors: Wang
authors: Gen
authors: G
authors: Tang
authors: Ying
authors: Y
authors: Zu
authors: Xiaowen
authors: X
authors: Chen
authors: Dong
authors: D
authors: Cui
authors: Min
authors: M
authors: Zhang
authors: Zhongxiang
authors: Z
authors: Qi
authors: Chengrong
authors: C
authors: Li
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000201:enzymology* / Q000235:genetics; D001483:Base Sequence; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008765:Methylmalonyl-CoA Mutase / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation
chemical_list: D008765:Methylmalonyl-CoA Mutase