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2023 ACMG Annual Clinical Genetics Meeting Digital ...
The Clinical Utility of Plasma Lyso-Gb3 in the Dia ...
The Clinical Utility of Plasma Lyso-Gb3 in the Diagnosis of Fabry Disease in Infants and Adults
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The document discusses the clinical utility of plasma lyso-Gb3 in the diagnosis of Fabry disease (FD) in infants and adults. FD is an X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene. Enzyme diagnosis is reliable in type 1 males but molecular diagnosis is required for type 2 males and heterozygous females. However, molecular testing may be limited when no variations or uncertain/novel variants are found through sequencing. The study evaluated 122 Fabry patients with confirmed diagnoses using leukocyte α-Gal A activity measurement and plasma lyso-Gb3 measurement. The results showed that plasma lyso-Gb3 levels were elevated in adult male and female FD patients, with higher levels seen in type 1 patients. Adding plasma lyso-Gb3 significantly improved the detection rate of type 1 females and type 2 males and females. The sensitivity of enzyme testing was higher in males than in females. The study also highlighted the diagnostic challenges in infants, as positive newborn screening results with variants of uncertain significance or novel variants can be difficult to diagnose. Early diagnosis is crucial for early treatment with enzyme replacement therapy or chaperone therapy. Plasma lyso-Gb3 is a more sensitive diagnostic marker than Gb3 in adult patients and may serve as a valuable biomarker for diagnosis, particularly in patients with inconclusive enzymatic analysis and uncertain variants. However, further studies are needed to correlate lyso-Gb3 levels with disease severity and to determine metabolic thresholds for elevated lyso-Gb3 in type 2 patients. Additionally, the study acknowledged limitations such as sampling bias and the need for correlation with enzyme activity.
Asset Subtitle
Presenting Author - Wenjiao Li, PhD; Co-Author - Brandon Stauffer, PhD; Co-Author - Hongjie Chen, PhD/FACMG; Co-Author - Jing Xiao, PhD; Co-Author - Yu Leng Phua, PhD, FACMG; Co-Author - Neal Cody, PhD; Co-Author - Lisa Edelmann, PhD, FACMG; Co-Author - Ruth Kornreich, PhD, FACMG; Co-Author - Robert J. Desnick, MD, PhD; Co-Author - Chunli Yu, MD;
Meta Tag
Biochemical genetics
Delineation of Diseases
Genetic Testing
Lysosomal Diseases
Metabolic Disorder
Co-Author
Brandon Stauffer, PhD
Co-Author
Hongjie Chen, PhD/FACMG
Co-Author
Jing Xiao, PhD
Co-Author
Yu Leng Phua, PhD, FACMG
Co-Author
Neal Cody, PhD
Co-Author
Lisa Edelmann, PhD, FACMG
Co-Author
Ruth Kornreich, PhD, FACMG
Co-Author
Robert J. Desnick, MD, PhD
Co-Author
Chunli Yu, MD
Presenting Author
Wenjiao Li, PhD
Keywords
clinical utility
plasma lyso-Gb3
diagnosis
Fabry disease
infants
adults
X-linked lysosomal storage disorder
GLA gene
enzyme diagnosis
molecular diagnosis
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