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两名患有轻度精神神经症状的同胞中的非酮症高甘氨酸血症。

Non-ketotic hyperglycinemia in two sibs with mild psycho-neurological symptoms.

作者信息

Holmgren G, son Blomquist H K

出版信息

Neuropadiatrie. 1977 Feb;8(1):67-72. doi: 10.1055/s-0028-1091506.

Abstract

Non-ketotic hyperglycinemia (NKH) has been diagnosed in two sibs. At the age 2:5 years and 1:3 years respectively only moderate psycho-motor retardation and muscular hypotonia were seen in the elderly child while no psycho-neurological symptoms were seen in the younger sib. Neither of the children had convulsions. This observation is in contrast to earlier published cases of this disorder. A summary of earlier published cases of non-ketotic hyperglycinemia is presented.

摘要

已在两名同胞中诊断出非酮症高甘氨酸血症(NKH)。分别在2岁5个月和1岁3个月时,年长儿童仅出现中度精神运动发育迟缓及肌张力减退,而年幼儿童未出现任何精神神经症状。两个孩子均未发生惊厥。这一观察结果与该疾病早期发表的病例情况不同。本文呈现了非酮症高甘氨酸血症早期发表病例的总结。

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