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August 2, 2024Frontiers in GeneticsOpen Access

Case report: Comprehensive exploration of a novel PFKM mutation in glycogen storage disease Type VII

Ying Chen Xinyu Wang Na Ji Qi Fang Xin Chang Meirong Liu

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Abstract

Glycogen Storage Disease Type VII (GSD VII) is a rare glycogen metabolism disorder resulting from mutations in the PFKM gene, inherited in an autosomal recessive manner. It is characterized by exercise intolerance, muscle cramps, myoglobinuria, compensatory hemolysis, and later onset

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Cite This Study

Chen et al. (2024) studied this question.

synapsesocial.com/papers/68e5daf7b6db6435875710ee https://doi.org/10.3389/fgene.2024.1422908

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Glycogen Storage Disorder Type IXb: Exploring Clinical Patterns and Genetic Insights Into a Rare Phosphorylase Kinase B (PHKB)-Associated Case2024
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4Glucose dynamics in glycogen storage disease type IXa with novel PHKA2 variants: insights from our experience and a comprehensive review of the disease spectrum2025 · 3 citations
5A Case Report of Glycogen Storage Disorder Type IIIa in a Pediatric Patient: Clinical Approach and Molecular DiagnosisCase Report · 2026

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