Analysis of a child with carnitine palmitoyl transferase 1A deficiency due to variant of CPT1A gene.
10.3760/cma.j.cn511374-20200309-00146
- Author:
Zhen ZHOU
1
;
Liming YANG
;
Hongmei LIAO
;
Zeshu NING
;
Bo CHEN
;
Zhi JIANG
;
Sai YANG
;
Miao WANG
;
Zhenghui XIAO
Author Information
1. Department of Neurology, Hunan Children's Hospital, Changsha, Hunan 410007, China. xiaozh888@126.com.
- Publication Type:Journal Article
- MeSH:
Carnitine/blood*;
Carnitine O-Palmitoyltransferase/genetics*;
Child;
DNA Mutational Analysis;
Female;
Humans;
Hypoglycemia/genetics*;
Lipid Metabolism, Inborn Errors/genetics*
- From:
Chinese Journal of Medical Genetics
2021;38(2):184-187
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To report on the clinical, metabolic and genetic characteristics of a child with carnitine palmitoyl transferase 1A (CPT1A) deficiency.
METHODS:Clinical data and the level of acylcarnitine for a child who initially presented as epilepsy were analyzed. Genomic DNA was extracted from peripheral blood samples of the child and her parents and subjected to next-generation sequencing (NGS).
RESULTS:Mass spectrometry of blood acylcarnitine indicated increased carnitine 0 (C0) and significantly increased C0/ (C16+C18). DNA sequencing revealed that the child has carried compound heterozygous variants of the CPT1A gene, namely c.1846G>A and c.2201T>C, which were respectively inherited from her mother and father.
CONCLUSION:CPT1A presenting initially as epilepsy was unreported previously. Analysis of blood acylcarnitine C0 and C0/ (C16 + C18) ratio and NGS are necessary for the identification and diagnosis of CPT1A deficiency. The c.1846G>A and c.2201T>C variants of the CPT1A gene probably underlay the disease in this child. Above finding has also enriched the spectrum of CPT1A gene variants.
