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

• Published in: Molecular genetics and metabolism Vol. 89; no. 3; pp. 274 - 276
• Main Authors: van Spronsen, F.J., Reijngoud, D.J., Verhoeven, N.M., Soorani-Lunsing, R.J., Jakobs, C., Sijens, P.E.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.11.2006
• Subjects: Amino Acid Metabolism, Inborn Errors - therapy; Arginine; Arginine - blood; Argininosuccinate lyase deficiency; Argininosuccinate Synthase - deficiency; Argininosuccinate synthetase deficiency; Argininosuccinic Aciduria; Brain - metabolism; Child; Child, Preschool; Citrullinemia; Creatine; Creatine - blood; Creatine - metabolism; Creatine - urine; Female; Glycine - analogs & derivatives; Glycine - blood; Glycine - metabolism; Glycine - urine; Guanidinoacetate; Guanidinoacetate methyltransferase deficiency; Humans; Infant, Newborn; Male; Pregnancy; Urea cycle defects; Arginine; Argininosuccinate lyase deficiency; Citrullinemia; Urea cycle defects; Guanidinoacetate methyltransferase deficiency; Argininosuccinate synthetase deficiency; Creatine; Guanidinoacetate
• ISSN: 1096-7192; 1096-7206
• DOI: 10.1016/j.ymgme.2006.02.005

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.