Partial N-acetylglutamate synthetase deficiency in a 13-year-old girl: diagnosis and response to treatment with N-carbamylglutamate

被引：0

作者：

B. Plecko

W. Erwa

B. Wermuth

机构：

[1] University Hospital Graz,

[2] Department of Paediatrics,undefined

[3] Auenbruggerplatz 30,undefined

[4] A-8036 Graz,undefined

[5] Austria,undefined

[6] Tel.: +43-316-385 2813 or 3715,undefined

[7] Fax: +43-316-385 2657 or 3300,undefined

[8] Department of Medical and Chemical Laboratory Diagnosis (BL III),undefined

[9] Diagnosis University of Graz,undefined

[10] Graz,undefined

[11] Austria,undefined

[12] Department of Clinical Chemistry,undefined

[13] Inselspital,undefined

[14] University of Berne,undefined

[15] Berne,undefined

[16] Switzerland,undefined

来源：

European Journal of Pediatrics | 1998年 / 157卷

关键词：

Key words Hyperammonaemia; N-acetylglutamate synthetase deficiency; N-carbamylglutamate;

D O I：

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学科分类号：

摘要：

We report on a now 13-year-old girl, who presented with recurrent episodes of vomiting, psychotic behaviour and confusion during puberty until the diagnosis of partial N-acetylglutamate synthetase deficiency was established. She had suffered one prior unclear episode of acute vomiting, lethargy and somnolence at the age of 13 months, and from childhood onward had aversion to high protein food. Treatment with a protein-restricted diet and administration of phenylbutyrate as well as l-arginine were sufficient to normalize ammonia levels but glutamine concentrations remained high. Supplementation with N-carbamylglutamate rapidly improved her protein tolerance and reduced the need for co-medication. To our knowledge, so far only seven patients with N-acetylglutamate synthetase deficiency have been reported.

引用

页码：996 / 998

页数：2