Expert consensus for the diagnosis and treatment of glutaricacidemia type 1

VernacularTitle:戊二酸血症1型诊治专家共识
Author: Lianshu HAN ¹ ; Yanling YANG ; Rulai YANG ; Ruimin CHEN ; Xinwen HUANG
Author Information

1. 上海交通大学医学院附属新华医院，上海市儿科医学研究所　200092
Keywords: Glutaricacidemia type 1; Diagnosis; Treatment; Consensus
From: Chinese Journal of Medical Genetics 2021;38(1):1-6
CountryChina
Language:Chinese
Abstract: Glutaricacidemia type 1(GA1) is an autosomal recessive disease caused by reduced or missing glutaryl-CoA dehydrogenase activity which hamps metabolism of lysine, hydroxylysine and tryptophan. The catabolic products of glutarylcarnitine and glutaric acid are abnormally accumulated in the body, resulting in metabolic disorders which primarily lead to damage to the nervous system. Clinical manifestations of patients include macrocephaly, dystonia, dyskinesia, and developmental retardation. Acute encephalopathy may be induced in infants and young children due to infection, vaccination and surgery. For GA1 is a rare disease and its clinical manifestations are similar to other neurological diseases, it may be easily missed or misdiagnosed. To facilitate early diagnosis and treatment and improve the prognosis, this consensus was formulated by pediatric experts from the fields of endocrinology and genetic metabolism through full discussion and reference to the latest literature and guidelines home and abroad.