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中文Alpha-Aminoadipic and Alpha-Ketoadipic Aciduria (AAKAD)
Alias:
2-Aminoadipic 2-Oxoadipic Aciduria
Amoxad
Alpha-Aminoadipic Aciduria
2-Ketoadipic Aciduria
Aakad
Aciduria, 2-Aminoadipic 2-Oxoadipic
Amino Adipic Aciduria
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α-氨基己二酸和α-酮己二酸尿，也称为2-氨基己二酸2-氧己二酸尿，与线粒体DNA耗竭综合征18和低张力有关。与α-氨基己二酸和α-酮己二酸尿有关的重要基因是DHTKD1（脱氢酶E1和转酮醇酶域含1），其相关通路/超级通路包括代谢和SLITs和ROBOs的表达调控。相关表型为全球发育延迟和轻度全球发育延迟。
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