doi: 10.1016/j.ymgme.2006.02.005.
Epub 2006 Apr 3.
High cerebral guanidinoacetate and variable creatine concentrations in argininosuccinate synthetase and lyase deficiency: implications for treatment?
Affiliations
- PMID: 16580861
- DOI: 10.1016/j.ymgme.2006.02.005
Item in Clipboard
High cerebral guanidinoacetate and variable creatine concentrations in argininosuccinate synthetase and lyase deficiency: implications for treatment?
Mol Genet Metab.
2006 Nov.
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.
Similar articles
-
Cerebral 1H MR spectroscopy showing elevation of brain guanidinoacetate in argininosuccinate lyase deficiency.Mol Genet Metab. 2006 May;88(1):100-2. doi: 10.1016/j.ymgme.2005.10.013. Epub 2005 Dec 15. Mol Genet Metab. 2006. PMID: 16343968
-
Guanidinoacetate and creatine/creatinine levels in controls and patients with urea cycle defects.Mol Genet Metab. 2004 Jul;82(3):220-3. doi: 10.1016/j.ymgme.2004.04.009. Mol Genet Metab. 2004. PMID: 15234335
-
Improving treatment of guanidinoacetate methyltransferase deficiency: reduction of guanidinoacetic acid in body fluids by arginine restriction and ornithine supplementation.Mol Genet Metab. 2001 Dec;74(4):413-9. doi: 10.1006/mgme.2001.3257. Mol Genet Metab. 2001. PMID: 11749046
-
Creatine and creatine deficiency syndromes: biochemical and clinical aspects.Pediatr Neurol. 2010 Mar;42(3):163-71. doi: 10.1016/j.pediatrneurol.2009.07.015. Pediatr Neurol. 2010. PMID: 20159424 Review.
-
Urea cycle enzymopathies.Semin Liver Dis. 1982 Nov;2(4):329-39. doi: 10.1055/s-2008-1040719. Semin Liver Dis. 1982. PMID: 6763345 Review. No abstract available.
Cited by
-
Creatine metabolism in urea cycle defects.J Inherit Metab Dis. 2012 Jul;35(4):647-53. doi: 10.1007/s10545-012-9494-x. Epub 2012 May 30. J Inherit Metab Dis. 2012. PMID: 22644604
-
Free Radical Scavengers Prevent Argininosuccinic Acid-Induced Oxidative Stress in the Brain of Developing Rats: a New Adjuvant Therapy for Argininosuccinate Lyase Deficiency?Mol Neurobiol. 2020 Feb;57(2):1233-1244. doi: 10.1007/s12035-019-01825-0. Epub 2019 Nov 9. Mol Neurobiol. 2020. PMID: 31707633
-
Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond.Am J Med Genet C Semin Med Genet. 2011 Feb 15;157C(1):45-53. doi: 10.1002/ajmg.c.30289. Epub 2011 Feb 10. Am J Med Genet C Semin Med Genet. 2011. PMID: 21312326 Free PMC article. Review.
-
Suggested guidelines for the diagnosis and management of urea cycle disorders.Orphanet J Rare Dis. 2012 May 29;7:32. doi: 10.1186/1750-1172-7-32. Orphanet J Rare Dis. 2012. PMID: 22642880 Free PMC article. Review.
-
Creatine Deficiency Disorders: Phenotypes, Genotypes, Diagnosis, and Treatment Outcomes.Turk Arch Pediatr. 2023 Mar;58(2):129-135. doi: 10.5152/TurkArchPediatr.2023.23022. Turk Arch Pediatr. 2023. PMID: 36856349 Free PMC article.
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Medical
Miscellaneous
