title: [Analysis of clinical data and genetic mutations in three Chinese patients with tyrosinemia type I].
abstract: OBJECTIVE
  To analyze clinical data and gene mutations in 3 Chinese patients with tyrosinemia type I, and to explore the correlation between genotypes and phenotypes.
  
  
  METHODS
  Three patients suspected with tyrosinemia I were tested by tandem mass spectrometry for the level of tyrosine, phenylalanine and succinylacetone in the blood, and by gas chromatography-mass spectrometry to determine the level of succinylacetone and organic acid in their urine. With the diagnosis established, the FAH gene was analyzed with polymerase chain reaction (PCR) and direct sequencing.
  
  
  RESULTS
  Two patients had acute onset of the disease, while another had subacute onset of the disease, with features including hepatomegaly and remarkably increased tyrosine and succinylacetone in the blood. Five mutations were detected in the FAH gene, which included c.455G>A (W152X), c.520C>T (R174X), c.974_976delCGAinsGC, c.1027 G>A (G343R) and c.1100 G>A (W367X), among which c.455G>A (W152X), c.974_976delCGAinsGC and c.1100 G>A (W367X) were not reported previously.
  
  
  CONCLUSIONS
  Tyrosinemia type I may be effectively diagnosed with the level of tyrosine and succinylacetone by tandem mass spectrometry and succinylacetone in the urine by gas chromatography mass spectrometry. Detection of underlying mutations mutations will be helpful for genetic counseling and further research.
authors.affiliation: Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute of Pediatric Research, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200092, P R China.
authors.forename: Nan
authors.initials: N
authors.lastname: Yang
authors.forename: Lian-shu
authors.initials: LS
authors.lastname: Han
authors.forename: Jun
authors.initials: J
authors.lastname: Ye
authors.forename: Wen-juan
authors.initials: WJ
authors.lastname: Qiu
authors.forename: Hui-wen
authors.initials: HW
authors.lastname: Zhang
authors.forename: Zhu-wen
authors.initials: ZW
authors.lastname: Gong
authors.forename: Ya-fen
authors.initials: YF
authors.lastname: Zhang
authors.forename: Yu
authors.initials: Y
authors.lastname: Wang
authors.forename: Xue-fan
authors.initials: XF
authors.lastname: Gu
mesh_terms: D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002681:China; D005260:Female; D006801:Humans; D006867:Hydrolases / Q000235:genetics*; D007223:Infant; D008297:Male; D009154:Mutation; D020176:Tyrosinemias / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D006867:Hydrolases; C020156:fumarylacetoacetase