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.