[Analysis of four carnitine-acylcarnitine translocase deficiency cases caused by homozygous mutation of SLC25A20 c.199-10T> G].
Zhonghua Er Ke Za Zhi
; 56(7): 545-549, 2018 Jul 02.
Article
en Zh
| MEDLINE
| ID: mdl-29996190
ABSTRACT
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.Palabras clave
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Proteínas de Transporte de Membrana
/
Carnitina Aciltransferasas
/
Errores Innatos del Metabolismo Lipídico
/
Mutación
Tipo de estudio:
Observational_studies
/
Risk_factors_studies
Límite:
Humans
/
Infant
/
Newborn
País/Región como asunto:
Asia
Idioma:
Zh
Revista:
Zhonghua Er Ke Za Zhi
Año:
2018
Tipo del documento:
Article
País de afiliación:
China