Characteristics of clinical manifestations and molecular genetics of inherited hyperhomocysteinemia in children and adolescents: a single center experience from China.

Rui Qu, Aimin Han, Yang Zhao, Xiangju Qu, Yali Zhu

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Article in Frontiers in neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 · Who and what money

Authors and funding

5 authors.

Rui QuDepartment of Pediatrics, The Affiliated Hospital of Xuzhou Medical University, Xuzhou, China.

Aimin HanDepartment of Pediatrics, The Affiliated Hospital of Xuzhou Medical University, Xuzhou, China.

Yang ZhaoDepartment of Ophthalmology, Xuzhou Cancer Hospital, Xuzhou, China.

Xiangju QuSchool of Mechanical and Electrical Engineering, Xuzhou University of Technology, Xuzhou, China.

Yali ZhuDepartment of Pediatrics, The Affiliated Hospital of Xuzhou Medical University, Xuzhou, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Accurate identification of the genetic cause of inherited hyperhomocysteinemia (HHcy) is essential for targeted therapies and individualized treatment. However, reported cases in China remain limited. In this study, we investigated the clinical and molecular genetic characteristics of HHcy in Chinese children/adolescents. Methods: Between 2021 and 2024, eight children/adolescents with inherited HHcy were identified at a tertiary hospital. The patients' clinical presentations, biochemical findings, and genetic profiles were analyzed. Results: Eight Chinese patients exhibited elevated plasma total homocysteine (tHcy) levels (85.7-227.2 μmol/L). These patients revealed 11 variants across 3 genes, including 2 novel variants and 9 previously reported pathogenic variants. All patients were compound heterozygotes. Six patients (P1-6) were diagnosed with cystathionine β-synthase (CBS) deficiency, with seven Discussion: Elevated tHcy is an important biomarker for inherited HHcy. Genetic testing is crucial for precise diagnosis, therapy initiation, and genetic counseling. Two novel pathogenic variants were identified, enriching the variant spectrum for inherited HHcy.

Indexed as

cerebral venous sinus thrombosiscobalamin Ccystathionine β-synthasehyperhomocysteinemiamethylenetetrahydrofolate reductase

Identifiers

PMID40994713

DOI10.3389/fneur.2025.1588273

PMCPMC12454082

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