Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation

American Journal of Medical Genetics

Volumn 133 A, Issue 2, 2005, Pages 122-127

  Caldeira Araujo H ^a   Smit, W ^b   Verhoeven, N M ^c   Salomons, G S ^c   Silva, S ^d   Vasconcelos, R ^d   Tomas H ^a   Tavares De Almeida, I ^e   Jakobs, C ^c   Duran, M ^b  

^a UNIVERSITY OF MADEIRA   (Portugal)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

^c VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^d Ctro Psicopedagogico da Sagrada F   (Portugal)

^e RESEARCH INSTITUTE FOR MEDICINES IMED ULISBOA   (Portugal)

Author keywords

Convulsions; Creatine biosynthesis; Guanidinoacetate; Guanidinoacetate methyltransferase; Mental retardation; Mutations

Indexed keywords

ADENINE NUCLEOTIDE; CREATININE; GUANIDINOACETATE METHYLTRANSFERASE; GUANIDINOACETIC ACID; GUANINE NUCLEOTIDE; METHYLTRANSFERASE; PYRIMIDINE NUCLEOTIDE; UNCLASSIFIED DRUG; URIC ACID;

ADULT; ARTICLE; CEREBROSPINAL FLUID LEVEL; CHEMICAL ANALYSIS; CLINICAL ARTICLE; CONVULSION; CREATININE BLOOD LEVEL; CREATININE URINE LEVEL; DEATH; DEVELOPMENTAL DISORDER; DIAGNOSTIC PROCEDURE; DIAGNOSTIC VALUE; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE SEVERITY; ENZYME ACTIVITY; ENZYME DEFICIENCY; FAMILY; FEMALE; GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY; HUMAN; INBORN ERROR OF METABOLISM; INSTITUTIONALIZATION; LYMPHOBLAST; MALE; MENTAL DEFICIENCY; MISSENSE MUTATION; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; SCHOOL CHILD; SPEECH DEVELOPMENT; SPEECH DISORDER; URIC ACID BLOOD LEVEL; URIC ACID URINE LEVEL; URINE LEVEL;

EID: 20044386883     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30226     Document Type: Article

References (28)

1. Bodamer OA, Shannon MB, Gregg AR, Stöckler-Ipsiroglu S, O'Brien WE. 2001. Analysis of guanidinoacetate and creatine by isotope dilution electrospray tandem mass spectrometry. Clin Chim Acta 308:173-178.
2. Caldeira Araújo H, Smit W, Verhoeven NM, Tomas H, Silva S, Vasconcelos R, Tavares de Almeida I, Jakobs C, Duran M. 2002. Urinary uric acid vs. creatinine as a screening tool for GAMT deficiency. J Inherit Metab Dis 25(Suppl 1):145.
3. Ensenauer R, Thiel T, Schwab KO, Lehnert W. 2000. Presence of muscle creatine in a patient with guanidinoacetate methyltransferase (GAMT) deficiency. J Inherit Metab Dis 23(Suppl 1):212.
4. Ganesan V, Johnson A, Connelly A, Eckhardt S, Surtees RAH. 1997. Guanidinoacetate methyltransferase deficiency: New clinical features. Pediatr Neurol 17:155-157.
5. Hunneman DH, Hanefeld F. 1997. GC-MS determination of guanidinoacetate in urine and plasma. J Inherit Metab Dis 20:450-452.
6. Ilas J, Muhl A, Stockler-Ipsiroglu S. 2000. Guanidinoacetate methyltransferase (GAMT) deficiency: Non-invasive enzymatic diagnosis of a newly recognized inborn error of metabolism. Clin Chim Acta 290:179-188.
7. Isbrandt D, Von Figura K. 1995. Cloning and sequence analysis of human guanidinoacetate N-methyltransferase cDNA. Biochim Biophys Acta 1264:265-267.
8. Item CB, Stöckler-Ipsiroglu S, Stromberger C, Mühl A, Alessandri MG, Bianchi MC, Tostti M, Fornai F, Cioni G. 2001. Arginine:glycine amidinotransferase deficiency: The third inborn error of creatine metabolism in humans. Am J Hum Genet 69:1127-1133.
9. Item CB, Stromberger C, Mühl A, Edlinger C, Bodamer OA, Schulze A, Surtees R, Leuzzi V, Salomons GS, Jakobs C, Stockler-Ipsiroglu S. 2002. Denaturating gradient gel electrophoresis for the molecular characterization of six patients with guanidinoacetate methyltransferase deficiency. Clin Chem 48:767-769.
10. Korall H, Wallner S, Löffler M. 2002. High throughput screening for guanidinoacetate methyltransferase (GAMT) deficiency by tandem mass spectrometry in urine. J Inherit Metab Dis 25(Suppl 1):144.
11. Leuzzi V, Bianchi MC, Tosetti M, Carducci C, Cerquiglini A, Cioni G, Antonozzi I. 2000. Brain creatine depletion: Guanidinoacetate methyltransferase deficiency (improving with creatine supplementation). Neurology 55:1407-1409.
12. Salomons GS, van Dooren SJM, Verhoeven NM, Cecil KM, Ball WS, DeGrauw TJ, Jakobs C. 2001. X-linked creatine transporter gene (SLC6A8) defect: A new creatine-deficiency syndrome. Am J Hum Genet 68:1497-1500.
13. Schulze A, Hess T, Wevers R, Mayatepek E, Bachert P, Maresceau B. 1997. Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: Diagnostic tools for a new inborn error of metabolism. J Pediatr 131:626-631.
14. Schulze A, Mayatepek E, Bachert P, Maresceau B, De Deyn PP, Rating D. 1998. Therapeutic trial of arginine restriction in creatine deficiency syndrome. Eur J Pediatr 157:606-607.
15. Schulze A, Ebinger F, Rating D, Mayatepek E. 2001. Improving treatment of guanidinoacetate methyltransferase deficiency: Reduction of guanidinoacetic acid in body fluids by arginine restriction and ornithine supplementation. Mol Genet Metab 74:413-419.
16. Schulze A, Backert P, Schlemmer H, Harting I, Polster T, Salomons GS, Verhoeven NM, Jakobs C, Fowler B, Hoffmann GF, Mayatepek E. 2003. Lack of creatine in muscle and brain in an adult with GAMT-deficiency. Annals Neurol 53:248-251.
17. Struys EA, Jansen EEW, Ten Brink HJ, Verhoeven NM, Van der Knaap MS, Jakobs C. 1998. An accurate stable isotope dilution gas chromatographic-mass spectrometric approach to the diagnosis of guanidinoacetate methyltransferase deficiency. J Pharm Biomed Anal 18:659-665.
18. Stöckler S, Holzbach U, Hanefeld F, Marquardt I, Helms G, Requart M, Hänicke W, Frahm J. 1994. Creatine deficiency in the brain: A new, treatable inborn error of metabolism. Pediatr Res 36:409-413.
19. Stöckler S, Hanefeld F, Frahm J. 1996a. Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error of metabolism. Lancet 348:789-790.
20. Stöckler S, Isbrandt D, Hanefeld F, Schmidt B, von Figura K. 1996b. Guanidinoacetate methyltransferase deficiency: The first inborn error of creatine metabolism in man. Am J Hum Genet 58:914-922.
21. Stöckler S, Marescau B, De Deyn PP, Trijbels JM, Hanefeld F. 1997. Guanidino compounds in guanidinoacetate methyltransferase deficiency, a new inborn error of creatine synthesis. Metabolism 46:1189-1193.
22. Stöckler-Ipsiroglu S. 1997. Creatine deficiency syndromes: A new perspective on metabolic disorders and a diagnostic challenge. J Pediatr 131:510-511.
23. Stöckler-Ipsiroglu S, Jakobs C. 2002. Creatine deficiency syndromes. 34th European Metabolic Group Meeting, Zurich.
24. Van der Knaap MS, Verhoeven NM, Maaswinkel-Mooij P, Pouwels PJ, Onkenhout W, Peeters EA, Stöckler-Ipsiroglu S, Jakobs C. 2000. Mental retardation and behavioural problems as presenting signs of a creatine synthesis defect. Ann Neurol 47:540-543.
25. Verhoeven NM, Schor DSM, Roos B, Struys EA, Van der Knaap MS, Salomons GS, Jakobs C. 2001. Stable isotope dilution enzyme assays for the detection of inborn errors of creatine biosynthesis. J Inherit Metab Dis 24(Suppl 1):118.
26. Von Figura K, Hanefeld F, Isbrandt D, Stöckler-Ipsiroglu S. 2000. Guanidinoacetate methyltransferase deficiency. In: Scriver CR, Beaudet AL, Valle D, Sly WS, editors. The metabolic and molecular bases of inherited disease. New York: McGraw Hill. pp 1897-1908.
27. Wyss M, Kaddurah-Daouk R. 2000. Creatine and creatinine metabolism. Physiol Rev 80:1107-1213.
28. Wyss M, Schulze A. 2002. Health implications of creatine: Can oral creatine supplementation protect against neurological and atherosclerotic disease? Neuroscience 112:243-260.