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

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

Journal: Metabolic brain disease 2019;34(2):641-649

PMID: 30570710

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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.

Address: Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.; Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland.; State Tertiary Vocational School in Oswiecim, Oswiecim, Poland.; Anthropology Laboratory, The Children's Memorial Health Institute, Warsaw, Poland.; Department of Diagnostic Imaging, The Children's Memorial Health Institute, Warsaw, Poland.; Department of Biochemistry, Radioimmunology and Experimental Medicine, The Children's Memorial Health Institute, Warsaw, Poland.; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.; Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland. [email protected].

DOI: 10.1007/s11011-018-0357-5

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MeSH Terms: Amino Acid Metabolism, Inborn Errors, Brain, Brain Diseases, Metabolic, Female, Glutarates, Glutaryl-CoA Dehydrogenase, Humans, Infant, Newborn, Male, Neuroimaging, Phenotype, Poland