D-GLYCERIC ACIDEMIA - AN INBORN ERROR ASSOCIATED WITH FRUCTOSE METABOLISM
D-GLYCERIC ACIDEMIA - AN INBORN ERROR ASSOCIATED WITH FRUCTOSE METABOLISM
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DOI：
10.1203/00006450-198705000-00016
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发表时间：
1987-05-01
影响因子：
3.6
通讯作者：
WADMAN, SK
中科院分区：
文献类型：
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作者：
DURAN, M;BEEMER, FA;WADMAN, SK
描述了一名患有癫痫发作的智力低下女孩。尿液有机酸筛查显示，甘油酸大量排泄，这是一种正常情况下几乎检测不到的代谢物。未观察到高血糖。尿甘油酸O-乙酰化(-)-薄荷酯的毛细管气相色谱分析表明，该物质具有D-构型。口服L丝氨酸2 0 0 mg/kg后，尿D-甘油酸酯排泄量无明显变化，但口服果糖(1g/kg)或二羟丙酮(1g/kg)后，D-甘油酸酯排泄量急剧增加。根据主观标准判断，适度限制果糖饮食的治疗导致了一些临床改善。代谢损伤被认为位于果糖分解代谢途径的某个步骤，可能处于肝脏三磷酸肌酸激酶缺乏症的水平。
A mentally retarded girl with epileptic seizures is described. Urinary organic acid screening revealed a massive excretion of glyceric acid, a normally barely detectable metabolite. Hyperglycinemia was not observed. Capillary gas chromatography of the O-acetylated (-)-menthyl ester of urinary glyceric acid showed the substance to have the D-configuration. The urinary D-glycerate excretion remained unaltered after an oral load with 200 mg/kg L-serine, but oral loading with fructose (1 g/kg) or dihyroxyacetone (1 g/kg) caused a sharp increase of the D-glycerate excretion. Treatment with a diet moderately restricted in fructose led to some clinical improvement as judged by subjective criteria. The metabolic lesion is thought to be located at some step of the fructose catabolic pathway, possibly at the level of hepatic triokinase deficiency.