Hepatic glycogen storage disease: Deciphering the genotype-phenotype conundrum.

Area of Science:

• Biochemistry
• Genetics
• Pediatrics

Background:

• Glycogen storage diseases (GSDs) are inherited metabolic disorders impacting glycogen synthesis or degradation.
• Hepatic GSDs present with overlapping clinical signs, complicating diagnosis and prognosis.
• Next-generation sequencing advances enable precise molecular diagnosis for GSDs, identifying novel variants.

Discussion:

• Molecular diagnostics facilitate tailored patient management, complication prediction, and prognostic assessments.
• Published mutation data for GSDs show significant racial and geographical variability.
• Understanding natural history and genotype-phenotype correlations across diverse populations is crucial.

Key Insights:

• Genetic profiling is increasingly vital for hepatic GSD management.
• This review synthesizes clinical subtypes, genetic mutation spectra, and genotype-phenotype correlations in hepatic GSDs.
• Recent studies highlight the importance of genetic profiling in hepatic GSDs.

Outlook:

• Further natural history and genotype-phenotype correlation studies are essential for comprehensive GSD understanding.
• Continued research will refine diagnostic and prognostic capabilities for hepatic GSDs.
• Integrating genetic data into clinical practice will improve patient outcomes.