Combined D-2-and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy:: A third biochemical variant of 2-hydroxyglutaric aciduria?

被引：45

作者：

Muntau, AC

Röschinger, W

Merkenschlager, A

van der Knaap, MS

Jakobs, C

Duran, M

Hoffmann, GF

Roscher, AA

机构：

[1] Univ Munich, Childrens Hosp, Dept Metab Dis, D-80337 Munich, Germany

[2] Univ Munich, Childrens Hosp, Dept Neuropediat, D-80337 Munich, Germany

[3] Free Univ Amsterdam Hosp, Dept Child Neurol, Amsterdam, Netherlands

[4] Free Univ Amsterdam Hosp, Dept Clin Chem, Metab Unit, Amsterdam, Netherlands

[5] Univ Utrecht, Childrens Hosp, Het Wilhelmina Kinderziekenhuis, Utrecht, Netherlands

[6] Univ Heidelberg, Childrens Hosp, Dept Neuropediat & Metab Dis, D-6900 Heidelberg, Germany

来源：

NEUROPEDIATRICS | 2000年 / 31卷 / 03期

关键词：

inherited metabolic disorder; organic aciduria; neonatal onset encephalopathy; infantile epilepsy; prenatal diagnosis; hydroxyglutaric aciduria;

D O I：

10.1055/s-2000-7497

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Two distinct disorders with elevated urinary excretion of 2-hydroxyglutaric acid are known: L-2-hydroxyglutaric aciduria and D-2-hydroxyglutaric aciduria. This paper presents clinical and biochemical studies in three patients and unsuccessful prenatal diagnosis in one case with combined D-2- and L-2-hydroxyglutaric aciduria. We suggest that these patients, who displayed a phenotype of neonatal onset metabolic encephalopathy, present a third variant of 2-hydroxyglutaric aciduria, Prenatal diagnosis is not reliable in this disorder.

引用

页码：137 / 140

页数：4

共 19 条

[1] L-2-hydroxyglutaric aciduria and lactic acidosis [J].