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Adult-onset glutaric aciduria type I: rare presentation of a treatable disorder.

Neurogenetics - 1 Jul 2020

Gelener Pınar, Severino Mariasavina, Diker Sevda, Teralı Kerem, Tuncel Gulten, Tuzlalı Hatice, Manara Elena, Paolacci Stefano, Bertelli Matteo, Ergoren Mahmut Cerkez

Abstract excerpt

Glutaric aciduria type I (GA1; OMIM #231670) is an autosomal recessively inherited and treatable disorder characterized by the accumulation and irregular excretion of glutaric acid due to a defect in the glutaryl-CoA dehydrogenase enzyme involved in the catabolic pathways of L-lysine, L-hydroxylysine, and L-tryptophan. Glutaryl-CoA dehydrogenase is encoded by the GCDH gene (OMIM #608801), and several mutations in...

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PMID: 32306145
DOI: 10.1007/s10048-020-00610-9

Genes

GCDH

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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