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Open Access 01-04-2019 | Original Article

Mild phenotype of glutaric aciduria type 1 in polish patients – novel data from a group of 13 cases

Authors: Paulina Pokora, Aleksandra Jezela-Stanek, Agnieszka Różdżyńska-Świątkowska, Elżbieta Jurkiewicz, Anna Bogdańska, Edyta Szymańska, Dariusz Rokicki, Elżbieta Ciara, Małgorzata Rydzanicz, Piotr Stawiński, Rafał Płoski, Anna Tylki-Szymańska

Published in: Metabolic Brain Disease | Issue 2/2019

Abstract

Glutaric aciduria type 1 is a neurometabolic disorder, caused by riboflavin-dependent glutaryl-CoA dehydrogenase deficiency. As its consequence, accumulation of the putatively neurotoxic metabolites (glutaric and 3-hydroxyglutaric acids) in body tissues, but especially within the brain, is observed. Estimated incidence of the disease is 1 in 110,000 newborns, The prevalence however may be higher, depending on a specific ethnic group, and result in phenotypic variation as well. In this paper we present clinical data of 13 patients of Polish nationality. They all present a mild phenotype and clinical course of glutaric aciduria type 1. Based on their clinical data, presented herein, we like to pay attention to the phenotypic and neuroimaging features important for the diagnosis of mild form of this disease. Moreover, we present novel molecular data, which may correlate with such a manifestation.

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Title: Mild phenotype of glutaric aciduria type 1 in polish patients – novel data from a group of 13 cases
Authors: Paulina Pokora
Aleksandra Jezela-Stanek
Agnieszka Różdżyńska-Świątkowska
Elżbieta Jurkiewicz
Anna Bogdańska
Edyta Szymańska
Dariusz Rokicki
Elżbieta Ciara
Małgorzata Rydzanicz
Piotr Stawiński
Rafał Płoski
Anna Tylki-Szymańska
Publication date: 01-04-2019
Publisher: Springer US
Published in: Metabolic Brain Disease / Issue 2/2019
Print ISSN: 0885-7490
Electronic ISSN: 1573-7365
DOI: https://doi.org/10.1007/s11011-018-0357-5

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Mild phenotype of glutaric aciduria type 1 in polish patients – novel data from a group of 13 cases

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

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