Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2021
[Expert consensus for the diagnosis and treatment of glutaricacidemia type 1].
СтатьяConsensus StatementНазвание и аннотация: Перевод в очереди
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Endocrinology, Genetics and Metabolism Group,Pediatric Branch of Chinese Medical Association, Neonatal Screening Group, Specialist Committee for Prevention and Control of Birth Defects Chinese Association of Preventive Medicine, Prevention and Control Committee of Birth Defects, Pediatric Branch of Chinese Medical Association, Han Lianshu, Yang Yanling, Yang Rulai, Chen Ruimin, Huang Xinwen
Аннотация
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.