Transient neonatal nonketotic hyperglycinemia: A 13-year follow-up

被引:12
|
作者
Zammarchi, E
Donati, MA
Ciani, F
机构
[1] Dipartimento di Pediatria, Universita di Firenze, Ospedale 'A Meyer', I-50132 Firenze
关键词
nonketotic hyperglycinemia; glycine cleavage system;
D O I
10.1055/s-2007-979785
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
We report on a patient with transient nonketotic hyperglycinemia (NKH). Onset, clinical features, biochemical and electroencephalographic findings were consistent with neonatal nonketotic hyperglycinemia. The normalization of clinical, biochemical and electroencephalographic features on day 9 without specific therapy suggested a transient form. At the last follow-up the girl was 13 years old, had a normal mental development, no EEG abnormalities or neurological deficits.
引用
收藏
页码:328 / 330
页数:3
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