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Clinical, biochemical and molecular findings of 24 Brazilian patients with glutaric acidemia type 1: 4 novel mutations in the GCDH gene.

Metabolic brain disease - 1 Feb 2021

Sitta Angela, Guerreiro Gilian, de Moura Coelho Daniella, da Rocha Vitoria Volfart, Dos Reis Bianca Gomes, Sousa Carmen, Vilarinho Laura, Wajner Moacir, Vargas Carmen Regla

Abstract excerpt

Glutaric aciduria type 1 (GA-1) is a rare but treatable inherited disease caused by deficiency of glutaryl-CoA dehydrogenase activity due to GCDH gene mutations. In this study, we report 24 symptomatic GA-1 Brazilian patients, and present their clinical, biochemical, and molecular findings. Patients were diagnosed by high levels of glutaric and/or 3-hydroxyglutaric and glutarylcarnitine. Diagnosis was confirmed...

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Source

Identifiers

PMID: 33064266
DOI: 10.1007/s11011-020-00632-0

Genes

GCDH

Provenance

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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