Mild phenotype of glutaric aciduria type 1 in polish patients - novel data from a group of 13 cases.
Metab Brain Dis
; 34(2): 641-649, 2019 04.
Article
en En
| MEDLINE
| ID: mdl-30570710
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.
Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Fenotipo
/
Encéfalo
/
Encefalopatías Metabólicas
/
Glutaril-CoA Deshidrogenasa
/
Neuroimagen
/
Errores Innatos del Metabolismo de los Aminoácidos
Tipo de estudio:
Risk_factors_studies
Límite:
Female
/
Humans
/
Male
/
Newborn
País/Región como asunto:
Europa
Idioma:
En
Revista:
Metab Brain Dis
Asunto de la revista:
CEREBRO
/
METABOLISMO
Año:
2019
Tipo del documento:
Article
País de afiliación:
Polonia