Worsening of Seizures After Asparagine Supplementation in a Child with Asparagine Synthetase Deficiency

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• 作者：Muhammad Talal Alrifai ; MD^a ; ^b ; ^{RifaiM@ngha.med.sa" class="auth_mail" title="E-mail the corresponding author} ; Majid Alfadhel ; MD ; MHSc ; FCCMG^b ; ^c ; ^{dralfadhelm@gmail.com" class="auth_mail" title="E-mail the corresponding author}
• 关键词：asparagine synthetase deficiency ; ASD ; neurometabolic ; inborn errors of metabolism ; asparagine ; l-asparagine
• 刊名：Pediatric Neurology
• 出版年：2016
• 出版时间：May 2016
• 年：2016
• 卷：58
• 期：Complete
• 页码：98-100
• 全文大小：223 K

文摘

Asparagine synthetase deficiency is an autosomal recessive neurometabolic disorder characterized clinically by severe congenital microcephaly, global developmental delay, intractable epilepsy, and motor impairment in the form of spastic quadriparesis. Diagnosis is confirmed by findings of low cerebral spinal fluid or plasma asparagine in addition to a mutation of the subsequently in ASNS gene. There is no documented trial of asparagine as a treatment for this disorder.

Patient Description

We present a child with asparagine synthetase deficiency whose mental status improved slightly from a vegetative state to a minimally conscious state after starting asparagine supplementation. He subsequently became irritable, developed sleep disturbance, and experienced worsening seizures, requiring discontinuation of the asparagine supplements.

Conclusions

Asparagine supplementation may be not effective in controlling the seizures in asparagine synthetase deficiency, and it is likely to make them worse.