Phenotypic and genotypic characteristics of adult-onset glutaric aciduria type 1: report of two cases and a literature review
Jieyu Li,
Zhiying Xie,
Ying Zhu
et al.
Abstract:Glutaric aciduria type 1 (GA-1) is an autosomal recessive inherited disorder caused by GCDH variations. GA-1 is a rare disease that typically manifests in infancy and early childhood, with adult-onset cases being even rarer. Currently, data on the clinical and genetic characteristics of adult-onset GA-1 remains limited. We hereby reported two new cases of adult-onset GA-1 and systematically summarized reported studies to investigate its genotypic and phenotypic features. Patient 1 presented with seizures as th… Show more
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