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- Title
Mild phenotype of glutaric aciduria type 1 in polish patients - novel data from a group of 13 cases.
- Authors
Pokora, Paulina; Jezela-Stanek, Aleksandra; Różdżyńska-Świątkowska, Agnieszka; Jurkiewicz, Elżbieta; Bogdańska, Anna; Szymańska, Edyta; Rokicki, Dariusz; Ciara, Elżbieta; Rydzanicz, Małgorzata; Stawiński, Piotr; Płoski, Rafał; Tylki-Szymańska, Anna
- 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.
- Subjects
DISEASE incidence; GLUTARIC acid; GRINDING &; polishing; PHENOTYPES; VITAMIN B2; ETHNIC groups
- Publication
Metabolic Brain Disease, 2019, Vol 34, Issue 2, p641
- ISSN
0885-7490
- Publication type
Article
- DOI
10.1007/s11011-018-0357-5