Regular ArticleImproving Treatment of Guanidinoacetate Methyltransferase Deficiency: Reduction of Guanidinoacetic Acid in Body Fluids by Arginine Restriction and Ornithine Supplementation
References (24)
- et al.
Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: Diagnostic tools for a new inborn error of metabolism
J Pediatr
(1997) - et al.
Guanidinoacetate methyltransferase deficiency: New clinical features
Pediatr Neurol
(1997) - et al.
Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error of metabolism
Lancet
(1996) - et al.
Convulsive action and toxicity of uremic guanidino compounds: Behavioral assessment and relation to brain concentration in adult mice
J Neurol Sci
(1992) - et al.
Guanidino compounds that are increased in hyperargininemia inhibit GABA and glycine responses on mouse neurons in cell culture
Epilepsy Res
(1991) - et al.
Neuroprotective effects of creatine administration against NMDA and malonate toxicity
Brain Res
(2000) - et al.
Effects of alpha-keto-delta-guanidinovaleric acid on inhibitory amino acid responses on mouse neurons in cell culture
Brain Res
(1988) - et al.
In vitro inhibition of Na+,K(+)-ATPase activity from rat cerebral cortex by guanidino compounds accumulating in hyperargininemia
Brain Res
(1999) - et al.
Guanidino compounds in serum, urine, liver, kidney, and brain of man and some ureotelic animals
Metabolism
(1992) - et al.
Endogenous synthesis and transport of creatine in the rat brain: An in situ hybridization study
Mol Brain Res
(2001)
X-Linked creatine-transporter gene (SLC6A8) defect: A new creatine-deficiency syndrome
Am J Hum Genet
(2001)
Cited by (133)
Gene therapy for guanidinoacetate methyltransferase deficiency restores cerebral and myocardial creatine while resolving behavioral abnormalities
2022, Molecular Therapy Methods and Clinical DevelopmentEngineering new metabolic pathways in isolated cells for the degradation of guanidinoacetic acid and simultaneous production of creatine
2022, Molecular Therapy Methods and Clinical DevelopmentMethod modification to reduce false positives for newborn screening of guanidinoacetate methyltransferase deficiency
2022, Molecular Genetics and MetabolismPrecision medicine in epilepsy
2022, Progress in Molecular Biology and Translational ScienceCitation Excerpt :Therefore, patients should be given oral creatine supplementation, which both supplements creatine directly and negatively inhibits AGAT to decrease production of GAA.37 Patients should also be put on a low-arginine diet and ornithine supplementation, to decrease substrate for AGAT and negatively inhibit AGAT, respectively.43,44 The supplementation of sodium benzoate—which conjugates with glycine and therefore decreases the amount of glycine that can be converted by AGAT to GAA—has also demonstrated positive effect.45
Current and potential new treatment strategies for creatine deficiency syndromes
2022, Molecular Genetics and MetabolismCreatine metabolism in patients with urea cycle disorders
2021, Molecular Genetics and Metabolism Reports
- 1
To whom correspondence should be addressed at University Children's Hospital, Im Neuenheimer Feld 150, 69120 Heidelberg, Germany. Fax: ++49 6221 563714. E-mail: [email protected].
Copyright © 2001 Elsevier Science (USA). All rights reserved.