Practical difficulties in the diagnosis of transient non-ketotic hyperglycinaemia

被引：11
|
作者：
Lang, T. F. [1 ]
Parr, J. R. [2 ]
Matthews, E. E. [3 ]
Gray, R. G. F. [4 ]
Bonham, J. R. [5 ]
Kay, J. D. S. [1 ]
机构：
[1] John Radcliffe Hosp, Dept Clin Biochem, Oxford, England
[2] Univ Oxford, Dept Paediat, Oxford OX1 2JD, England
[3] John Radcliffe Hosp, Dept Paediat, Oxford, England
[4] Birmingham Childrens Hosp, Dept Clin Biochem, Birmingham, W Midlands, England
[5] Sheffield Childrens Hosp NHS Trust, Dept Clin Biochem, Sheffield, S Yorkshire, England
来源：
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY | 2008年 / 50卷 / 02期
关键词：
D O I：
10.1111/j.1469-8749.2007.02003.x
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
Making a, diagnosis of transient non-ketotic hyperglycinaemia (tNKH) can be difficult. We report an infant who presented in the neonatal period with symptoms of NKH. Metabolic studies performed on day 2 of life showed raised cerebrospinal fluid (CSF) and plasma glycine, and a CSF:plasma glycine ratio consistent with NKH; however, a liver biopsy performed on day 5 revealed normal liver glycine cleavage system activity. Subsequently, the child's clinical condition improved in the absence of any therapeutic medication. Clinical assessment and developmental follow-up at 5 months, 1 year, and 2 years were age-appropriate. Guidance for the investigation and management of future suspected cases of tNKH is discussed.
引用
收藏
页码：157 / 159
页数：3
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