title: [Clinical features and genetic analysis of a case with carnitine palmitoyltransferase 1A deficiency].
abstract: OBJECTIVE
  To analyze the clinical and molecular features of a child with carnitine palmitoyltransferase 1A (CPT1A) deficiency.
  
  
  METHODS
  Clinical data of the child was collected. Blood acylcarnitine was determined with tandem mass spectrometry. DNA was extracted from the child and his parents. All exons and flanking regions of the CPT1A gene were analyzed by PCR and Sanger sequencing.
  
  
  RESULTS
  Analysis showed that the patient carried compound heterozygous mutations c.1787T>C and c.2201T>C of the CPT1A gene, which derived his father and mother, respectively. Both mutations were verified as novel through the retrieval of dbSNP, HGMD and 1000 genome databases. Bioinformatic analysis suggested that the mutations can affect protein function.
  
  
  CONCLUSIONS
  Acyl carnitine analysis has been the main method for the diagnosis of CPT1A deficiency. The c.1787T>C and c.2201T>C mutations of the CPT1A gene probably underlie the disease in this patient. Gene testing can provide important clues for genetic counseling and prenatal diagnosis.
authors.affiliation: Laboratory for Inborn Error of Metabolism, Institute of Pediatric Research, Affiliated Shenzhen Children's Hospital of Shantou University Medical College, Shenzhen, Guangdong 518038, China. 13008803656@163.com.
authors.forename: Dong
authors.initials: D
authors.lastname: Cui
authors.forename: Yuhui
authors.initials: Y
authors.lastname: Hu
authors.forename: Dan
authors.initials: D
authors.lastname: Shen
authors.forename: Gen
authors.initials: G
authors.lastname: Tang
authors.forename: Min
authors.initials: M
authors.lastname: Zhang
authors.forename: Jing
authors.initials: J
authors.lastname: Duan
authors.forename: Pengqiang
authors.initials: P
authors.lastname: Wen
authors.forename: Jianxiang
authors.initials: J
authors.lastname: Liao
authors.forename: Dongli
authors.initials: D
authors.lastname: Ma
authors.forename: Shuli
authors.initials: S
authors.lastname: Chen
mesh_terms: D001483:Base Sequence; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency* / Q000235:genetics; D005091:Exons; D005260:Female; D006801:Humans; D007003:Hypoglycemia / Q000201:enzymology / Q000235:genetics*; D007223:Infant; D008052:Lipid Metabolism, Inborn Errors / Q000201:enzymology / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation; D011247:Pregnancy
chemical_list: C577474:CPT1A protein, human; D002334:Carnitine O-Palmitoyltransferase