A Cases of Pyridoxine-Dependent Epilepsy Induced by ALDH7A1 Compound Heterozygous Mutation andLiterature Review

Xu Lei; Shen Yanfeng; Zhang Guixiang

doi:10.13407/j.cnki.jpp.1672-108X.2024.02.011

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A Cases of Pyridoxine-Dependent Epilepsy Induced by ALDH7A1 Compound Heterozygous Mutation andLiterature Review

更新时间：2024-03-04

- A Cases of Pyridoxine-Dependent Epilepsy Induced by ALDH7A1 Compound Heterozygous Mutation andLiterature Review
- Vol. 30, Issue 2, Pages: 40-44(2024)
- 作者机构：
  
  大连市妇女儿童医疗中心儿童院区,辽宁,大连,116011
- 作者简介：
- 基金信息：
- DOI：10.13407/j.cnki.jpp.1672-108X.2024.02.011
  CLC：
- Published：2024，
  
  Published Online：10 February 2024，
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Xu Lei, Shen Yanfeng, Zhang Guixiang. A Cases of Pyridoxine-Dependent Epilepsy Induced by ALDH7A1 Compound Heterozygous Mutation andLiterature Review. [J]. 30(2):40-44(2024)
DOI：

Xu Lei, Shen Yanfeng, Zhang Guixiang. A Cases of Pyridoxine-Dependent Epilepsy Induced by ALDH7A1 Compound Heterozygous Mutation andLiterature Review. [J]. 30(2):40-44(2024) DOI： 10.13407/j.cnki.jpp.1672-108X.2024.02.011.

摘要

目的:探讨ALDH7A1 吡哆醇依赖性癫痫(PDE)遗传性、临床特点及治疗。方法:收集1 例ALDH7A1 基因复合杂合突变致患儿癫痫发作伴发育落后临床及遗传学资料

并通过千人基因组计划数据库、基因组突变频率数据库(gnomAD)、PubMed、中国知网、万方数据库检索ALDH7A1、PDE 相关遗传学特点、临床表现、治疗及预后。结果:本例患儿ALDH7A1 基因复合杂合突变

其中染色体片段chr5:125447815-125906193 倒位

国内外均未见报道

为首次报道。结论:ALDH7A1 基因复合杂合突变致 PDE 是少见的遗传代谢性疾病

表型谱较广泛

早期进行生物标志物测定及基因检测可减少漏诊和误诊

改善患儿神经系统发育结局。

Abstract

Objective: To probe into the heritability

clinical characteristics and treatment of pyridoxine-dependent epilepsy induced by ALDH7A1 compound heterozygous mutation. Methods: Clinical and genetic data of a child with epilepsy complicated with developmental delay induced by ALDH7A1 compound heterozygous mutation were collected. The genetic characteristics

clinical manifestations

treatment and prognosis of ALDH7A1 gene and PDE were retrieved through 1

000 Genome Project

Genome Aggregation Database (gnomAD)

PubMed

CNKI and Wanfang database. Results: This case was the first report of a compound heterozygous mutation in ALDH7A1 gene

in which the chromosomal segment chr5:125447815-125906193 was inverted

which had not been reported at home and abroad. Conclusion: PDE induced by ALDH7A1 compound heterozygous mutation is a kind of rare inherited metabolic disorders with a broad phenotypic spectrum

early biomarker assays and genetic testing can reduce underdiagnosis and misdiagnosis and improve neurodevelopmental outcomes in children.

关键词

吡哆醇依赖性癫痫ALDH7A1维生素B6临床表现治疗

Keywords

pyridoxine-dependent epilepsyALDH7A1vitamin B6clinical manifestationstreatment

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