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Article

Glutaric aciduria type 1: Genetic and phenotypic spectrum in 53 patients.

European journal of medical genetics - 1 Nov 2020

Gürbüz Berrak Bilginer, Yılmaz Didem Yücel, Coşkun Turgay, Tokatlı Ayşegül, Dursun Ali, Sivri H Serap

Abstract excerpt

INTRODUCTION: Glutaric aciduria type 1 (GA1) is a rare and inherited autosomal-recessive metabolic disorder that occurs in the deficiency of glutaryl-co-enzyme A dehydrogenase (GCDH) enzyme encoded by GCDH gene. In this study, we aim to retrospectively investigate the clinical, biochemical, and neuroradiological parameters and examine the spectrum of GCDH gene variants in Turkish patients with glutaric aciduria...

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Identifiers

PMID: 32777384
DOI: 10.1016/j.ejmg.2020.104032

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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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