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.
journal_name
Metab Brain Disjournal_title
Metabolic brain diseaseauthors
Pokora P,Jezela-Stanek A,Różdżyńska-Świątkowska A,Jurkiewicz E,Bogdańska A,Szymańska E,Rokicki D,Ciara E,Rydzanicz M,Stawiński P,Płoski R,Tylki-Szymańska Adoi
10.1007/s11011-018-0357-5keywords:
["GCDH gene","Glutaric aciduria type 1","Phenotype-genotype correlation"]subject
Has Abstractpub_date
2019-04-01 00:00:00pages
641-649issue
2eissn
0885-7490issn
1573-7365pii
10.1007/s11011-018-0357-5journal_volume
34pub_type
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