High cerebral guanidinoacetate and variable creatine concentrations in argininosuccinate synthetase and lyase deficiency: Implications for treatment?
Copyright policy )High cerebral guanidinoacetate and variable creatine concentrations in argininosuccinate synthetase and lyase deficiency: Implications for treatment?
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.
- University Medical Center Groningen Netherlands
- University of Groningen Netherlands
- Amsterdam UMC, location VUmc Netherlands
Male, guanidinoacetate, Argininosuccinic Aciduria, Glycine, arginine, Argininosuccinate Synthase, Arginine, Pregnancy, Humans, BRAIN, Child, Amino Acid Metabolism, Inborn Errors, argininosuccinate lyase deficiency, citrullinemia, guanidinoacetate methyltransferase deficiency, Infant, Newborn, Brain, Creatine, creatine, urea cycle defects, Child, Preschool, Female, METHYLTRANSFERASE DEFICIENCY, argininosuccinate synthetase deficiency
Male, guanidinoacetate, Argininosuccinic Aciduria, Glycine, arginine, Argininosuccinate Synthase, Arginine, Pregnancy, Humans, BRAIN, Child, Amino Acid Metabolism, Inborn Errors, argininosuccinate lyase deficiency, citrullinemia, guanidinoacetate methyltransferase deficiency, Infant, Newborn, Brain, Creatine, creatine, urea cycle defects, Child, Preschool, Female, METHYLTRANSFERASE DEFICIENCY, argininosuccinate synthetase deficiency
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