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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

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Exploring genotype-phenotype correlations in glutaric aciduria type 1.

Imke M E Schuurmans^1,2,3,4, Bianca Dimitrov⁵, Julian Schröter^5,6

¹Department of Pediatrics, Radboud University Medical Center, Nijmegen, The Netherlands.

Journal of Inherited Metabolic Disease

|April 6, 2023

Summary

Glutaric aciduria type 1 (GA1) is a rare disease caused by GCDH gene variants. This study identifies 421 variants and analyzes genotype-phenotype correlations, finding a link between severe variants and reduced enzyme activity but no clear clinical correlation.

Keywords:

GCDH variants glutaric aciduria type 1 lysine catabolism disorder pathogenicity score phenotype-genotype correlation

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Published on: March 30, 2015

Area of Science:

Genetics
Biochemistry
Metabolic Disorders

Background:

Glutaric aciduria type 1 (GA1) is a rare neurometabolic disorder.
It stems from pathogenic variants in the glutaryl-CoA dehydrogenase (GCDH) gene.
Understanding the genetic landscape and genotype-phenotype correlations is crucial but poorly understood.

Purpose of the Study:

To provide an updated genetic landscape of GCDH pathogenic variants.
To investigate potential genotype-phenotype correlations in GA1 patients.
To correlate variant pathogenicity with residual enzyme activity.

Main Methods:

Extensive literature search and inclusion of unpublished cases to identify GCDH variants.
Combinatorial analysis of phenotypic data from 532 GA1 patients.
Mapping variants onto GCDH protein structure and in silico pathogenicity prediction.

Main Results:

Identified 421 GCDH pathogenic variants, including four novel ones.
Found variant frequency is higher in regions encoding GCDH active domains.
Highly pathogenic variants correlate with lower residual enzyme activity, with REVEL score showing the best estimation.

Conclusions:

A comprehensive catalog of GCDH variants in GA1 has been established.
While highly pathogenic variants associate with reduced enzyme function, a clear genotype-phenotype correlation remains elusive.
Further research is needed to fully elucidate the relationship between genotype and clinical presentation in GA1.