GAMT deficiency: 20years of a treatable inborn error of metabolism

Molecular Genetics and Metabolism

Volumn 111, Issue 1, 2014, Pages 1-3

  Braissant, Olivier ^a  

^a LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE; GUANIDINOACETATE METHYLTRANSFERASE; ARGININE; ORNITHINE; BENZOIC ACID; DRUG DERIVATIVE; GLYCINE; GUANIDINOACETIC ACID;

ENZYME DEFICIENCY; EXTRAPYRAMIDAL SYNDROME; FOLLOW UP; HUMAN; INBORN ERROR OF METABOLISM; INTELLECTUAL IMPAIRMENT; NEUROLOGIC DISEASE; NOTE; PRIORITY JOURNAL; AMINO ACID SUBSTITUTION; AUTISM; AUTOMUTILATION; BLOOD BRAIN BARRIER; DISEASE ASSOCIATION; GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY; INTRACTABLE EPILEPSY; MUSCLE HYPOTONIA; PHENOTYPE; PROTEIN EXPRESSION; PROTEIN RESTRICTION; SPEECH DELAY; BLOOD; DEVELOPMENTAL LANGUAGE DISORDER; FEMALE; MALE; METABOLISM; MOTOR DYSFUNCTION;

ARGININE; CREATINE; FEMALE; GLYCINE; GUANIDINOACETATE N-METHYLTRANSFERASE; HUMANS; INTELLECTUAL DISABILITY; LANGUAGE DEVELOPMENT DISORDERS; MALE; MOVEMENT DISORDERS; ORNITHINE; SODIUM BENZOATE;

EID: 84891830726     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2013.11.002     Document Type: Note

References (14)

1. Stöckler S., Holzbach U., Hanefeld F., Marquardt I., Helms G., Requart M., Hänicke W., Frahm J. Creatine deficiency in the brain: a new, treatable inborn error of metabolism. Pediatr. Res. 1994, 36:409-413.
2. Stöckler S., Hanefeld F., Frahm J. Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error of metabolism. Lancet 1996, 348:789-790.
3. Schulze A., Hess T., Wevers R., Mayatepek E., Bachert P., Marescau B., Knopp M.V., De Deyn P.P., Bremer H.J., Rating D. Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism. J. Pediatr. 1997, 131:626-631.
4. Item C.B., Stöckler-Ipsiroglu S., Stromberger C., Mühl A., Alessandri M.G., Bianchi M.C., Tosetti M., Fornai F., Cioni G. Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans. Am. J. Hum. Genet. 2001, 69:1127-1133.
5. Salomons G.S., van Dooren S.J., Verhoeven N.M., Cecil K.M., Ball W.S., Degrauw T.J., Jakobs C. X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome. Am. J. Hum. Genet. 2001, 68:1497-1500.
6. Stockler-Ipsiroglu S., van Karnebeek C., Longo N., Korenke G.C., Mercimek-Mahmutoglu S., Marquart I., Barshop B., Grolik C., Schlune A., Angle B., Araújo H.C., Coskun T., Diogo L., Geraghty M., Haliloglu G., Konstantopoulou V., Leuzzi V., Levtova A., MacKenzie J., Maranda B., Mhanni A.A., Mitchell G., Morris A., Newlove T., Renaud D., Scaglia F., Valayannopoulos V., van Spronsen F.J., Verbruggen K.T., Yuskiv N., Nyhan W., Schulze A. Guanidinoacetate methyltransferase (GAMT) deficiency: Outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring. Mol. Genet. Metab. 2014, 111:16-25.
7. Brosnan J.T., Brosnan M.E. Creatine: endogenous metabolite, dietary, and therapeutic supplement. Annu. Rev. Nutr. 2007, 27:241-261.
8. van de Kamp J.M., Jakobs C., Gibson K.M., Salomons G.S. New insights into creatine transporter deficiency: the importance of recycling creatine in the brain. J. Inherit. Metab. Dis. 2013, 36:155-156.
9. Schulze A. Creatine deficiency syndromes. Mol. Cell. Biochem. 2003, 244:143-150.
10. Stöckler S., Schutz P.W., Salomons G.S. Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology. Subcell. Biochem. 2007, 46:149-166.
11. Braissant O., Henry H., Béard E., Uldry J. Creatine deficiency syndromes and the importance of creatine synthesis in the brain. Amino Acids 2011, 40:1315-1324.
12. Braissant O. Creatine and guanidinoacetate transport at blood-brain and blood-cerebrospinal fluid barriers. J. Inherit. Metab. Dis. 2012, 35:655-664.
13. Schulze A., Ebinger F., Rating D., Mayatepek E. Improving treatment of guanidinoacetate methyltransferase deficiency: reduction of guanidinoacetic acid in body fluids by arginine restriction and ornithine supplementation. Mol. Genet. Metab. 2001, 74:413-419.
14. Mercimek-Mahmutoglu S., Sinclair G., van Dooren S.J., Kanhai W., Ashcraft P., Michel O.J., Nelson J., Betsalel O.T., Sweetman L., Jakobs C., Salomons G.S. Guanidinoacetate methyltransferase deficiency: first steps to newborn screening for a treatable neurometabolic disease. Mol. Genet. Metab. 2012, 107:433-437.