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.
Metab Brain Dis. 2019 Apr;34(2):641-649. doi: 10.1007/s11011-018-0357-5. Epub 2018 Dec 20.
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.
1 型戊二酸尿症是一种神经代谢紊乱，由黄素依赖的戊二酰辅酶 A 脱氢酶缺乏引起。其结果是，在身体组织中，尤其是在大脑中，观察到潜在神经毒性代谢物（戊二酸和 3-羟基戊二酸）的积累。据估计，该病的发病率为每 11 万新生儿中 1 例，但根据特定的种族，患病率可能更高，并导致表型变异。本文介绍了 13 名波兰籍患者的临床数据。他们均表现出戊二酸尿症 1 型的轻度表型和临床病程。基于本文呈现的临床数据，我们希望关注对该病轻度表型的诊断具有重要意义的表型和神经影像学特征。此外，我们还提供了可能与这种表现相关的新的分子数据。
