Analysis of four carnitine-acylcarnitine translocase deficiency cases caused by homozygous mutation of SLC25A20 c.199-10T> G
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 fro...
| Veröffentlicht in: | Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 56(2018), 7 vom: 02. Juli, Seite 545-549 |
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| Weitere Verfasser: | , , , , , , , , , |
| Format: | Online-Aufsatz |
| Sprache: | Chinese |
| Veröffentlicht: |
2018
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| Zugriff auf das übergeordnete Werk: | Zhonghua er ke za zhi = Chinese journal of pediatrics |
| Schlagworte: | Case Reports Journal Article Carnitine acyltransferases Metabolism, inborn errors Membrane Transport Proteins SLC25A20 protein, human EC 2.3.1. Carnitine Acyltransferases EC 2.3.1.- Carnitine |
| Zusammenfassung: | 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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| Beschreibung: | Date Completed 01.04.2019 Date Revised 01.04.2019 published: Print Citation Status MEDLINE |
| ISSN: | 0578-1310 |
| DOI: | 10.3760/cma.j.issn.0578-1310.2018.07.014 |