丙酸血症初始表现时无酸中毒
Absence of acidosis in the initial presentation of propionic acidaemia.
作者信息
Walter J H, Wraith J E, Cleary M A
机构信息
Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Pendlebury.
出版信息
Arch Dis Child Fetal Neonatal Ed. 1995 May;72(3):F197-9. doi: 10.1136/fn.72.3.f197.
Abstract
The clinical presentation and results of the initial biochemical and haematological investigations in 11 newborn term infants with propionic acidaemia are described. All patients had neurological symptoms. Only four had clinically important acidosis, but all had a raised blood ammonia. A diagnosis of propionic acidaemia should be considered in all newborn infants with unexplained neurological deterioration even in the absence of a metabolic acidosis.
摘要
本文描述了11例患有丙酸血症的足月新生儿的临床表现以及初始生化和血液学检查结果。所有患者均有神经系统症状。只有4例有具有临床意义的酸中毒，但所有患者血氨均升高。即使没有代谢性酸中毒，对于所有不明原因出现神经功能恶化的新生儿，均应考虑丙酸血症的诊断。
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本文引用的文献
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