一名患有慢性代谢性酸中毒患者的D-甘油酸血症

D-Glyceric acidemia in a patient with chronic metabolic acidosis.

作者信息

Wadman S K, Duran M, Ketting D, Bruinvis L, De Bree P K, Kamerling J P, Gerwig G J, Vliegenthart J F, Przyrembel H, Becker K, Bremer H J

出版信息

Clin Chim Acta. 1976 Sep 20;71(3):477-84. doi: 10.1016/0009-8981(76)90099-1.

DOI:10.1016/0009-8981(76)90099-1

PMID:971536

Abstract

A patient is described with glyceric acidemia and glyceric aciduria. The main clinical problems in infancy were severe metabolic acidosis and failure to thrive. The patient needs permanent treatment with bicarbonate. Hyperglycinemia, as described in the first case discovered elsewhere, was not present. The glyceric acid was found to have the D-configuration, as analyzed by capillary gas chromatography of its di-O-acetyl-l-menthyl ester. The abnormality may result from a defect in serine metabolism.

摘要

本文描述了一名患有甘油酸血症和甘油酸尿症的患者。婴儿期的主要临床问题是严重的代谢性酸中毒和发育不良。该患者需要长期用碳酸氢盐治疗。与其他地方发现的首例病例中所描述的高甘氨酸血症不同，该患者不存在此症状。通过对其二 -O - 乙酰 -l - 薄荷酯进行毛细管气相色谱分析，发现甘油酸具有D - 构型。这种异常可能是由于丝氨酸代谢缺陷所致。