High cerebral guanidinoacetate and variable creatine concentrations in argininosuccinate synthetase and lyase deficiency: Implications for treatment?

F. J. van Spronsen*, D. J. Reijngoud, N. M. Verhoeven, R. J. Soorani-Lunsing, C. Jakobs, P. E. Sijens

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

18 Citations (Scopus)

Abstract

Cerebral creatine and guanidinoacetate and blood and urine metabolites were studied in four patients with argininosuccinate synthetase (ASS) or argininosuccinate lyase (ASL) deficiency receiving large doses of arginine. Urine and blood metabolites varied largely. Cerebral guanidinoacetate was increased in all patients, while cerebral creatine was low in ASS and high in ASL deficiency. Because high cerebral guanidinoacetate might be toxic, lowering the arginine supplementation with additional creatine supplementation might be important. (c) 2006 Elsevier Inc. All rights reserved.

Original languageEnglish
Pages (from-to)274-276
Number of pages3
JournalMolecular Genetics and Metabolism
Volume89
Issue number3
DOIs
Publication statusPublished - Nov-2006

Keywords

  • arginine
  • urea cycle defects
  • citrullinemia
  • argininosuccinate lyase deficiency
  • argininosuccinate synthetase deficiency
  • guanidinoacetate
  • creatine
  • guanidinoacetate methyltransferase deficiency
  • METHYLTRANSFERASE DEFICIENCY
  • BRAIN

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