Compilation of Genotype and Phenotype Data in <i>GCDH</i>-LOVD for Variant Classification and Further Application

Compilation of Genotype and Phenotype Data in <i>GCDH</i>-LOVD for Variant Classification and Further Application

Glutaric aciduria type 1 (GA-1) is a rare but treatable autosomal-recessive neurometabolic disorder of lysin metabolism caused by biallelic pathogenic variants in glutaryl-CoA dehydrogenase gene (<i>GCDH</i>) that lead to deficiency of GCDH protein. Without treatment, this enzyme defect...

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Bibliographic Details
Main Authors: Alexandra Tibelius, Christina Evers, Sabrina Oeser, Isabelle Rinke, Anna Jauch, Katrin Hinderhofer
Format: Article
Language:English
Published: MDPI AG 2023-12-01
Series:Genes
Subjects:
glutaric aciduria
glutaric acidemia
glutaryl-CoA dehydrogenase
<i>GCDH</i>
inborn errors of metabolism
variant interpretation
Online Access:https://www.mdpi.com/2073-4425/14/12/2218

Internet

https://www.mdpi.com/2073-4425/14/12/2218

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