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

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 Dis

journal_title

Metabolic brain disease

authors

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 A

doi

10.1007/s11011-018-0357-5

keywords:

["GCDH gene","Glutaric aciduria type 1","Phenotype-genotype correlation"]

subject

Has Abstract

pub_date

2019-04-01 00:00:00

pages

641-649

issue

2

eissn

0885-7490

issn

1573-7365

pii

10.1007/s11011-018-0357-5

journal_volume

34

pub_type

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