2-氨基己二酸2-氧代己二酸尿症是英文疾病名称2-aminoadipic 2-oxoadipic aciduria的中文翻译,这是一种与赖氨酸代谢有关的常染色体隐性疾病。 根据佳学基因《人的基因序列变人与人体疾病表征》数据库,这种疾病可能没有明显的疾病表征,也可能在少年时期发病。表现出业的疾病状态有轻到重度的智力低下、肌张力低下、发...
DHTKD1 Mutations Cause 2-Aminoadipic and 2-Oxoadipic Aciduriadoi:10.1016/j.ajhg.2012.10.006Abnormalities in metabolite profiles are valuable indicators of underlying pathologic conditions at the molecular level. However, their interpretation relies on detailed knowledge of the pathways, enzymes, and ...
2-Aminoadipate and 2-oxoadipate are shared products of the l-tryptophan, l-lysine, and l-hydroxylysine degradative pathways [3], [4] (Fig. 1A). Recently, one molecular cause underlying the aciduria characteristic of patients displaying high levels of 2-aminoadipate and 2-oxoadipate was ...
2-Oxoadipic aciduriaDHTKD1HydroxylysineLysineOrganic acidemiaTryptophan2-Ketoadipic aciduria (OMIM 204750), a defect in the catabolic pathway of tryptophan, lysine, and hydroxylysine, is characterized by elevations in 2-ketoadipic, 2-aminoadipic, and 2-hydroxyadipic acids. Patients with the ...
Glutaric aciduria type 1 (GA1) is an inborn error of lysine degradation characterized by acute encephalopathy that is caused by toxic accumulation of lysine degradation intermediates. We investigated the efficacy of substrate reduction through inhibition of 2-aminoadipic semialdehyde synthase (AASS), an...
DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria Am. J. Hum. Genet., 91 (2012), pp. 1082-1087 View PDFView articleView in ScopusGoogle Scholar 14 M. Mukherji, N.J. Kershaw, C.H. MacKinnon, I.J. Clifton, A.S. Wierzbicki, C.J. Schofield, et al. ‘Chemical co-sub...
These include α-aminoadipic and α-ketoadipic aciduria (AMOXAD), a rare disorder of l -lysine, l -hydroxylysine, and l -tryptophan catabolism, associated with clinical presentations such as developmental delay, mild-to-severe intellectual disability, ataxia, epilepsy, and behavioral disorders that ...