ADULT-ONSET CHOREA AND DEMENTIA WITH PROPIONIC ACIDEMIA
ADULT-ONSET CHOREA AND DEMENTIA WITH PROPIONIC ACIDEMIA
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DOI：
10.1212/wnl.39.10.1343
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发表时间：
1989-10-01
期刊：
影响因子：
9.9
通讯作者：
HOMMES, FA
中科院分区：
文献类型：
--
作者：
SETHI, KD;RAY, R;HOMMES, FA
丙酸血症多见于新生儿期，伴有严重的代谢性酸中毒和嗜睡。1例31岁男性成人起病舞蹈病和痴呆症患者因丙酰辅酶A羧基酶缺乏而出现丙酸血症。代谢检查可能对病因不明的运动障碍患者有用。
Propionic acidemia usually presents in the newborn period with severe metabolic acidosis and lethargy. A 31-year-old man with adult onset chorea and dementia had propionic acidemia due to propionyl CoA carboxylase deficiency. Metabolic investigations may prove useful in patients with move ment disorder of unknown etiology.