一例伴有孤立性乙基丙二酸尿症的短链酰基辅酶A脱氢酶缺乏症新病例。
A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria.
作者信息
Sewell A C, Herwig J, Böhles H, Rinaldo P, Bhala A, Hale D E
机构信息
Department of Paediatrics, University Children's Hospital, Frankfurt am Main, Germany.
出版信息
Eur J Pediatr. 1993 Nov;152(11):922-4. doi: 10.1007/BF01957531.
PMID:8276024
Abstract
A 28-month-old Turkish girl presented with recurrent bronchopneumonia and severe muscular hypotonia. Urinary excretion of ethylmalonic acid was persistently elevated, methylsuccinate appearing only in stress situations. Studies in cultured fibroblasts showed a deficiency of short-chain acyl-CoA dehydrogenase.
摘要
一名28个月大的土耳其女孩出现反复支气管肺炎和严重的肌张力减退。尿中乙基丙二酸排泄持续升高，甲基琥珀酸仅在应激情况下出现。对培养的成纤维细胞的研究显示短链酰基辅酶A脱氢酶缺乏。
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