PMID- 28397225
OWN - NLM
STAT- MEDLINE
DCOM- 20170914
LR  - 20210503
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 34
IP  - 2
DP  - 2017 Apr 10
TI  - [Clinical features and genetic analysis of a case with carnitine 
      palmitoyltransferase 1A deficiency].
PG  - 228-231
LID - 10.3760/cma.j.issn.1003-9406.2017.02.017 [doi]
AB  - 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. CONCLUSION: 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.
FAU - Cui, Dong
AU  - Cui D
AD  - 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.
FAU - Hu, Yuhui
AU  - Hu Y
FAU - Shen, Dan
AU  - Shen D
FAU - Tang, Gen
AU  - Tang G
FAU - Zhang, Min
AU  - Zhang M
FAU - Duan, Jing
AU  - Duan J
FAU - Wen, Pengqiang
AU  - Wen P
FAU - Liao, Jianxiang
AU  - Liao J
FAU - Ma, Dongli
AU  - Ma D
FAU - Chen, Shuli
AU  - Chen S
LA  - chi
PT  - Case Reports
PT  - Journal Article
PL  - China
TA  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi
JT  - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese 
      journal of medical genetics
JID - 9425197
RN  - EC 2.3.1.21 (CPT1A protein, human)
RN  - EC 2.3.1.21 (Carnitine O-Palmitoyltransferase)
RN  - Carnitine palmitoyl transferase 1A deficiency
SB  - IM
MH  - Base Sequence
MH  - Carnitine O-Palmitoyltransferase/*deficiency/genetics
MH  - Exons
MH  - Female
MH  - Humans
MH  - Hypoglycemia/enzymology/*genetics
MH  - Infant
MH  - Lipid Metabolism, Inborn Errors/enzymology/*genetics
MH  - Male
MH  - Molecular Sequence Data
MH  - Point Mutation
MH  - Pregnancy
EDAT- 2017/04/12 06:00
MHDA- 2017/09/15 06:00
CRDT- 2017/04/12 06:00
PHST- 2017/04/12 06:00 [entrez]
PHST- 2017/04/12 06:00 [pubmed]
PHST- 2017/09/15 06:00 [medline]
AID - 940634048 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2017.02.017 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Apr 10;34(2):228-231. doi: 
      10.3760/cma.j.issn.1003-9406.2017.02.017.