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231225s2018 xx |||||o 00| ||chi c |
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|a 10.3760/cma.j.issn.0578-1310.2018.07.014
|2 doi
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|a pubmed25n0954.xml
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|e rakwb
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|a chi
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|a Fan, X
|e verfasserin
|4 aut
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|a Analysis of four carnitine-acylcarnitine translocase deficiency cases caused by homozygous mutation of SLC25A20 c.199-10T> G
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|c 2018
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|a Text
|b txt
|2 rdacontent
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|a ƒaComputermedien
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|a Date Completed 01.04.2019
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|a Date Revised 01.04.2019
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|a published: Print
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|a Citation Status MEDLINE
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|a Objective: To investigate the clinical, biochemical and genetic features of four carnitine-acylcarnitine translocase deficiency cases. Methods: Four cases diagnosed with carnitine-acylcarnitine translocase deficiency from Guangxi Maternal and Child Health Hospital were studied. DNA was extracted from dry blood filter for gene analysis. SLC25A20 gene analysis was performed in 1 case and the whole exon sequence analysis was performed in 3 cases. Results: Retrospective study on unrelated carnitine-acylcarnitine translocase deficiency patients, the age of onset was 1-28 d, the age of death were 1.5-30 d, main clinical features were hypoglycemia (4 cases), arrhythmia (2 cases), sudden death (2 cases). Biochemical test showed hypoglycemia (1.2-2.0 mmol/L) , elevated creatine kinase (955-8 361 U/L) and creatine kinase isozyme(199-360 U/L), normal or decreased free carnitine level (3.70-27.07 μmol/L) , elevated long-chain acylcarnitine (palmityl carnitine 1.85-14.84 μmol/L). The gene tests showed that all 4 cases carried SLC25A20 gene c.199-10T> G homozygous mutation, inherited from their parents. By analyzing the haplotype, we found that the mutation loci of C. 199-10T> G were all in the same haplotype. Conclusion: The c.199-10T> G mutation is an important molecular cause of carnitine-acylcarnitine translocase deficiency, which has relatively high frequency in Guangxi population, and is related to the founder effect
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|a Case Reports
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|a Journal Article
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|a Carnitine acyltransferases
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|a Metabolism, inborn errors
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|a Membrane Transport Proteins
|2 NLM
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|a SLC25A20 protein, human
|2 NLM
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|a EC 2.3.1.
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|a Carnitine Acyltransferases
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|a EC 2.3.1.-
|2 NLM
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|a Carnitine
|2 NLM
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|2 NLM
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1 |
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|a Xie, B B
|e verfasserin
|4 aut
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|a Zhang, Q
|e verfasserin
|4 aut
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|a Yi, S
|e verfasserin
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|a Geng, G X
|e verfasserin
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|a Yang, Q
|e verfasserin
|4 aut
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|a Luo, J S
|e verfasserin
|4 aut
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|a Wang, J
|e verfasserin
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|a Li, C
|e verfasserin
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|a Chen, S K
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|a Shen, Y P
|e verfasserin
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|i Enthalten in
|t Zhonghua er ke za zhi = Chinese journal of pediatrics
|d 1960
|g 56(2018), 7 vom: 02. Juli, Seite 545-549
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|g volume:56
|g year:2018
|g number:7
|g day:02
|g month:07
|g pages:545-549
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|u http://dx.doi.org/10.3760/cma.j.issn.0578-1310.2018.07.014
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