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Propionic acidemia without acidemia: a case report.

作者信息

Ramachandran R, Pietz J

机构信息

Children's Medical Center, Dayton, OH 45404-1815, USA.

出版信息

J Perinatol. 1995 Jan-Feb;15(1):71-3.

PMID:7650559
Abstract

Propionic acidemia is a recessively inherited disorder of organic acid metabolism characterized by a spectrum of clinical and biochemical findings. Metabolic acidosis is a key feature of this disease and is useful in differentiating it from nonketotic hyperglycinemia. This case report is presented because significant metabolic acidosis was not a prominent or persistent finding in this patient.

摘要

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Propionic acidemia: diagnosis and neuroimaging findings of this neurometabolic disorder.丙酸血症:这种神经代谢障碍的诊断及神经影像学表现
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Gas chromatographic-mass spectrometric newborn screening for propionic acidaemia by targeting methylcitrate in dried filter-paper urine samples.通过靶向干滤纸尿样中的甲基柠檬酸进行气相色谱-质谱联用新生儿丙酸血症筛查。
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The glutamine paradox in a neonate with propionic acidaemia and severe hyperammonaemia.
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