GAMT deficiency: Features, treatment, and outcome in an inborn error of creatine synthesis

Neurology

Volumn 67, Issue 3, 2006, Pages 480-484

  Mercimek Mahmutoglu, S ^a   Stoeckler Ipsiroglu, S ^a,t   Adami, A ^b   Appleton, R ^c   Araújo, H Caldeira ^d   Duran, M ^e   Ensenauer, R ^f   Fernandez Alvarez, E ^g   Garcia, P ^h   Grolik, C ⁱ   Item, C B ^j   Leuzzi, V ^k   Marquardt, I ^l   Muhl A ^j   Saelke Kellermann, R A ^m   Salomons, G S ⁿ   Schulze, A ^o   Surtees, R ^p   Van Der Knaap, M S ⁿ   Vasconcelos, R ^q   Verhoeven, N M ⁿ   Vilarinho, L ^r   Wilichowski, E ^s   Jakobs, C ⁿ   more..

^a BC CHILDREN S HOSPITAL   (Canada)

^b AO San Paolo   (Italy)

^c ALDER HEY CHILDREN S HOSPITAL   (United Kingdom)

^d UNIVERSITY OF MADEIRA   (Portugal)

^e ACADEMIC MEDICAL CENTER   (Netherlands)

^f LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^g HOSPITAL SANT JOAN DE DÉU   (Spain)

^h CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

ⁱ Kinderkrankenhaus Kliniken Stadt Koeln   (Germany)

^j MEDICAL UNIVERSITY OF VIENNA   (Austria)

^k SAPIENZA UNIVERSITY OF ROME   (Italy)

^l Abteilung fuer Neuropaediatrie   (Germany)

^m SWISS EPILEPSY CENTER   (Switzerland)

ⁿ VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^o UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^p UNIVERSITY COLLEGE LONDON   (United Kingdom)

^q Ctro Psicopedagogico da Sagrada F   (Portugal)

^r NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

^s UNIVERSITY OF GÖTTINGEN   (Germany)

^t UNIVERSITY OF BRITISH COLUMBIA   (Canada)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CREATINE; ORNITHINE;

ADOLESCENT; ADULT; ARTICLE; BIOCHEMISTRY; BODY FLUID; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CORRELATION ANALYSIS; DIAGNOSTIC PROCEDURE; DIET RESTRICTION; DISEASE SEVERITY; FEMALE; GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY; HUMAN; INBORN ERROR OF METABOLISM; INTELLECTUAL IMPAIRMENT; INTELLIGENCE QUOTIENT; MALE; MEDICAL LITERATURE; MOTOR DYSFUNCTION; MUTATION; OUTCOME ASSESSMENT; PHENOTYPE; PRIORITY JOURNAL; QUESTIONNAIRE; SEIZURE; SUPPLEMENTATION; TREATMENT OUTCOME;

ADOLESCENT; ADULT; CHILD; CREATINE; EPILEPSY; FEMALE; GLYCINE; GUANIDINOACETATE N-METHYLTRANSFERASE; HUMANS; MALE; METABOLISM, INBORN ERRORS; MOVEMENT DISORDERS;

EID: 33747075772     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000234852.43688.bf     Document Type: Article

References (28)

1. Von Figura K, Hanefeld F, Isbrandt D, Stöckler-Ipsiroglu S. Guanidinoacetate methyltransferase deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular basis of inherited disease, 8th ed. New York: McGraw-Hill, 2001:1897-1908.
2. Stockler S, Holzbach U, Hanefeld F, et al. Creatine deficiency in the brain: a new, treatable inborn error of metabolism. Pediatr Res 1994;36:409-413.
3. Stockler S, Isbrandt D, Hanefeld F, Schmidt B, von Figura K. Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man. Am J Hum Genet 1996;58:914-922.
4. Stockler S, Marescau B, De Deyn PP, Trijbels JM, Hanefeld F. Guanidino compounds in guanidinoacetate methyltransferase deficiency, a new inborn error of creatine synthesis. Metabolism 1997;46:1189-1193.
5. Stockler S, Hanefeld F, Frahm J. Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error of metabolism. Lancet 1996;348:789-790.
6. 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.
7. Schulze A, Hess T, Wevers R, et al. Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism. J Pediatr 1997;131:626-631.
8. Ganesan V, Johnson A, Connelly A, Eckhardt S, Surtees RA. Guanidinoacetate methyltransferase deficiency: new clinical features. Pediatr Neurol 1997;17:155-157.
9. Van der Knaap MS, Verhoeven NM, Maaswinkel-Mooij P, et al. Mental retardation and behavioral problems as presenting signs of a creatine synthesis defect. Ann Neurol 2000;47:540-543.
10. Leuzzi V, Bianchi MC, Tosetti M, et al. Brain creatine depletion: guanidinoacetate methyltransferase deficiency (improving with creatine supplementation). Neurology 2000;55:1407-1409.
11. Ensenauer R, Thiel T, Schwab KO, et al. Guanidinoacetate methyltransferase deficiency: differences of creatine uptake in human brain and muscle. Mol Genet Metab 2004;82:208-213.
12. Schulze A, Bachert P, Schlemmer H, et al. Lack of creatine in muscle and brain in an adult with GAMT deficiency. Ann Neurol 2003;53:248-251.
13. Leuzzi V, Carducci C, Carducci Ch, et al. A mutation on exon 6 of guanidinoacetate methyltransferase gene supports a different function for isoform a and b of GAMT enzyme. Mol Genet Metab 2006;87:88-90.
14. Vilarinho L, Valongo C, Cardoso ML, et al. Five new Portuguese patients with guanidinoacetate methyltransferase deficiency: biochemical, enzymatic and molecular data. J Inherit Metab Dis 2004;27(suppl 1) :213.
15. Araujo HC, Smit W, Verhoeven NM, et al. Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation. Am J Med Genet A 2005;133A:122-127.
16. Struys EA, Jansen EE, ten Brink HJ, Verhoeven NM, van der Knaap MS, Jakobs C. An accurate stable isotope dilution gas chromatographic-mass spectrometric approach to the diagnosis of guanidinoacetate methyltransferase deficiency. J Pharm Biomed Anal 1998;18:659-665.
17. Bodamer OA, Bloesch SM, Gregg AR, Stockler-Ipsiroglu S, O'Brien WE. Analysis of guanidinoacetate and creatine by isotope dilution electrospray tandem mass spectrometry. Clin Chim Acta 2001;308:173-178.
18. Korall H, Göggerle M, Frauendienst-Egger G, Trefz FK. Multiple disease categories screening analysis (multiscan) in urine by tandem mass spectrometry. J Inherit Metab Dis 2000;23(suppl 1):8.
19. Marescau B, Deshmukh DR, Kockx M, et al. Guanidino compounds in serum, urine, liver, kidney, and brain of man and some ureotelic animals. Metabolism 1992;41:526-532.
20. Ilas J, Muhl A, Stockler-Ipsiroglu S. Guanidinoacetate methyltransferase (GAMT) deficiency: non-invasive enzymatic diagnosis of a newly recognized inborn error of metabolism. Clin Chim Acta 2000;290:179-188.
21. Verhoeven NM, Roos B, Struys EA, Salomons GS, van der Knaap MS, Jakobs C. Enzyme assay for diagnosis of guanidinoacetate methyltransferase deficiency. Clin Chem 2004;50:441-443.
22. Item CB, Stromberger C, Muhl A, et al. Denaturing gradient gel electrophoresis for the molecular characterization of six patients with guanidinoacetate methyltransferase deficiency. Clin Chem 2002;48:767-769.
23. Item CB, Mercimek-Mahmutoglu S, Battini R, et al. Characterisation of seven novel mutations in seven patients with GAMT deficiency. Hum Mutat 2004;23:524.
24. Stockler-Ipsiroglu S, Battini R, de Grauw T, Schulze A. Disorder of creatine metabolism. In: Blau N, Hoffmann GF, Leonard J, Clarke JTR, eds. Physician's guide to the treatment and follow-up of metabolic diseases. Heidelberg, Germany: Springer-Verlag, 2005:255-265.
25. Schulze A. Creatine deficiency syndromes. Mol Cell Biochem 2003;244:143-150.
26. Stromberger C, Bodamer OA, Stockler-Ipsiroglu S. Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism. J Inherit Metab Dis 2003;26:299-308.
27. Walker JB. Creatine: biosynthesis, regulation, and function. Adv Enzymol 1979;50:177-242.
28. Hiramatsu M. A role for guanidino compounds in the brain. Mol Cell Biochem 2003;244:57-62.