Acute encephalopathy despite early therapy in a patient with homozygosity for E365K in the glutaryl-coenzyme A dehydrogenase gene

被引：15

作者：

Kölker, S

Ramaekers, VT

Zschocke, J

Hoffmann, GF

机构：

[1] Univ Heidelberg, Childrens Hosp, Dept Gen Pediat, D-69120 Heidelberg, Germany

[2] Univ Aachen, Childrens Hosp, Dept Neuropediat, D-5100 Aachen, Germany

来源：

JOURNAL OF PEDIATRICS | 2001年 / 138卷 / 02期

关键词：

D O I：

10.1067/mpd.2001.110303

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

A patient with glutaric aciduria type I had an acute encephalopathic crisis despite early treatment. This report indicates that current therapeutic strategies may be insufficient for some high-risk patients and stresses the demand for new approaches in glutaric aciduria type I.

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收藏

页码：277 / 279

页数：3

相关论文

共 12 条

[1] Sensitivity and specificity of free and total glutaric acid and 3-hydroxyglutaric acid measurements by stable-isotope dilution assays for the diagnosis of glutaric aciduria type I [J].

Baric, I ;

Wagner, L ;

Feyh, P ;

Liesert, M ;

Buckel, W ;

Hoffmann, GF .

JOURNAL OF INHERITED METABOLIC DISEASE, 1999, 22 (08) :867-881

[2]

Goodman SI, 1998, HUM MUTAT, V12, P141, DOI 10.1002/(SICI)1098-1004(1998)12:3<141::AID-HUMU1>3.0.CO

[3]

2-K

[4]

GOODMAN SI, 1995, BASIS INHERITED META, P1451

[5] Population newborn screening for inherited metabolic disease: Current UK perspectives [J].

Green, A ;

Pollitt, RJ .

JOURNAL OF INHERITED METABOLIC DISEASE, 1999, 22 (04) :572-579

[6] Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency [J].

Hoffmann, GF ;

Athanassopoulos, S ;

Burlina, AB ;

Duran, M ;

deKlerk, JBC ;

Lehnert, W ;

Leonard, JV ;

Monavari, AA ;

Muller, E ;

Muntau, AC ;

Naughten, ER ;

PleckoStarting, B ;

SupertiFurga, A ;

Zschocke, J ;

Christensen, E .

NEUROPEDIATRICS, 1996, 27 (03) :115-123

[7] Blockade of NMDA receptors and apoptotic neurodegeneration in the developing brain [J].

Ikonomidou, C ;

Bosch, F ;

Miksa, M ;

Bittigau, P ;

Vöckler, J ;

Dikranian, K ;

Tenkova, TI ;

Stefovska, V ;

Turski, L ;

Olney, JW .

SCIENCE, 1999, 283 (5398) :70-74

[8]

Kölker S, 2000, PEDIATR RES, V47, P495

[9]

MCGARRY JD, 1976, J LIPID RES, V17, P277

[10] Prevention of cerebral palsy in glutaric aciduria type 1 by dietary management [J].

Monavari, AA ;

Naughten, ER .

ARCHIVES OF DISEASE IN CHILDHOOD, 2000, 82 (01) :67-70