Practical difficulties in the diagnosis of transient non-ketotic hyperglycinaemia

被引：12

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

页码：157 / 159

页数：3

共 14 条

[1]

Bellman M., 1996, SCHEDULE GROWING SKI

[2]

Atypical variants of nonketotic hyperglycinemia [J].

Dinopoulos, A ;

Matsubara, Y ;

Kure, S .

MOLECULAR GENETICS AND METABOLISM, 2005, 86 (1-2) :61-69

[3]

NEUROLOGIC SEQUELAE IN TRANSIENT NONKETOTIC HYPERGLYCINEMIA OF THE NEONATE [J].

EYSKENS, FJM ;

VANDOORN, JWD ;

MARIEN, P .

JOURNAL OF PEDIATRICS, 1992, 121 (04) :620-621

[4]

HAMOSH A, 2001, METABOLIC MOL BASES, P2065, DOI DOI 10.1023/A:1017409002434

[5]

Reference data for cerebrospinal fluid and the utility of amino acid measurement for the diagnosis of inborn errors of metabolism [J].

Jones, CM ;

Smith, M ;

Henderson, MJ .

ANNALS OF CLINICAL BIOCHEMISTRY, 2006, 43 :63-66

[6]

Korman SH, 2002, DEV MED CHILD NEUROL, V44, P712

[7]

Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia [J].

Kure, S ;

Kato, K ;

Dinopoulos, A ;

Gail, C ;

deGrauw, TJ ;

Christodoulou, J ;

Bzduch, V ;

Kalmanchey, R ;

Fekete, G ;

Trojovsky, A ;

Plecko, B ;

Breningstall, G ;

Tohyama, J ;

Aoki, Y ;

Matsubara, Y .

HUMAN MUTATION, 2006, 27 (04) :343-352

[8]

ENZYMATIC DIAGNOSIS OF NONKETOTIC HYPERGLYCINEMIA WITH LYMPHOBLASTS [J].

KURE, S ;

NARISAWA, K ;

TADA, K .

JOURNAL OF PEDIATRICS, 1992, 120 (01) :95-98

[9]

TRANSIENT NONKETOTIC HYPERGLYCINEMIA IN NEONATES [J].

LUDER, AS ;

DAVIDSON, A ;

GOODMAN, SI ;

GREENE, CL .

JOURNAL OF PEDIATRICS, 1989, 114 (06) :1013-1015

[10]

Transient nonketotic hyperglycinemia in an asphyxiated patient with pyridoxine-dependent seizures [J].

Maeda, T ;

Inutsuka, M ;

Goto, K ;

Izumi, T .

PEDIATRIC NEUROLOGY, 2000, 22 (03) :225-227

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