2-hydroxyglutaric aciduria: A case report on an infant with the D-isomeric form with review of the literature

JOURNAL OF THE NEUROLOGICAL SCIENCES

卷:143

Article

Geerts, Y ; Renier, WO ; Bakkeren, J ; deJong, J

关键词: early infantile epilepsy;    psychomotor delay;    inborn error of metabolism;    hydroxyglutaric aciduria;   

DOI  :  10.1016/S0022-510X(96)00179-7

来源: Elsevier

【 摘 要 】

We report on an infant with D-2-hydroxyglutaric aciduria, who presented with severe seizures and developmental delay. We reviewed the literature for 2-hydroxyglutaric aciduria and found six other patients with the D-isomer and 24 patients with the L-isomer. Although the clinical spectrum of this inborn error of metabolism is variable, the clinical course of the D-form stems to he more seven than this of the L-form.

【 授权许可】

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