Laboratory diagnosis of defects of creatine biosynthesis and transport

Clinica Chimica Acta

Volumn 361, Issue 1-2, 2005, Pages 1-9

  Verhoeven, Nanda M ^a   Salomons, Gajja S ^a   Jakobs, Cornelis ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Creatine; Creatine transporter; Guanidinoacetate; Guanidinoacetate methyltransferase; Inborn error of metabolism; L Arginine:glycine amidinotransferase; SLC6A8

Indexed keywords

CARRIER PROTEIN; CREATINE; CREATININE; GLYCINE AMIDINOTRANSFERASE; GUANIDINOACETATE METHYLTRANSFERASE; GUANIDINOACETIC ACID; PROTEIN SLC6A8; UNCLASSIFIED DRUG;

ANALYTIC METHOD; BLOOD ANALYSIS; CLINICAL FEATURE; DIAGNOSTIC ACCURACY; DIAGNOSTIC ERROR; DIAGNOSTIC PROCEDURE; DISEASE COURSE; ENZYME ACTIVITY; ENZYME ANALYSIS; ENZYME DEFICIENCY; GENE MUTATION; GENETIC ASSOCIATION; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; INBORN ERROR OF METABOLISM; ION EXCHANGE CHROMATOGRAPHY; LABORATORY DIAGNOSIS; LIQUID CHROMATOGRAPHY; MASS SPECTROMETRY; MUTATIONAL ANALYSIS; NEWBORN SCREENING; PRIORITY JOURNAL; PROTEIN DEFECT; PROTON NUCLEAR MAGNETIC RESONANCE; REVIEW; TANDEM MASS SPECTROMETRY; THIN LAYER CHROMATOGRAPHY; URINALYSIS;

BIOLOGICAL TRANSPORT; CREATINE; DIAGNOSTIC TESTS, ROUTINE; GLYCINE; HUMANS; MUTATION;

EID: 25644446103     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cccn.2005.04.022     Document Type: Review

References (31)

1. Salomons GS, Wyss M, Jakobs C Creatine. In: Encyclopedia of dietary supplements, Marcel Dekker Inc. in press; 151-158.
2. M. Wyss, and R. Kaddurah-Daouk Creatine and creatinine metabolism Phys Rev 80 2000 1107 1213
3. C.B. Item, S. Stöckler-Ipsiroglu, and C. Stromberger Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans Am J Hum Genet 69 2001 1127 1133
4. R. Battini, V. Leuzzi, and C. Carducci Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree Mol Genet Metab 77 2002 326 331
5. C. Stromberger, O.A. Bodamer, and S. Stöckler-Ipsiroglu Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism J Inherit Metab Dis 26 2003 299 308
6. G.S. Salomons, S.J. van Dooren, and N.M. Verhoeven X-linked creatine transporter defect: an overview J Inherit Metab Dis 26 2003 309 318
7. E.H. Rosenberg, L.S. Almeida, and T. Kleefstra High prevalence of SLC6A8 deficiency in X-linked mental retardation Am J Hum Genet 75 2004 97 105
8. G.M. Mancini, C.E. Catsman-Berrevoets, and I.F. de Coo Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families Am J Med Genet 132A 3 2004 288 295
9. C. Carducci, M. Birarelli, and V. Leuzzi Guanidinoacetate and creatine plus creatinine assessment in physiologic fluids: an effective diagnostic tool for the biochemical diagnosis of arginine:glycine amidinotransferase and guanidinoacetate methyltransferase deficiencies Clin Chem 48 2002 1772 1778
10. N.M. Verhoeven, W.S. Guerand, E.A. Struys, A.A. Bouman, M.S. van der Knaap, and C. Jakobs Plasma creatinine assessment in creatine deficiency: a diagnostic pitfall J Inherit Metab Dis 23 2000 835 840
11. S. Stöckler, B. Marescau, P.P. De Deyn, J.M. Trijbels, and F. Hanefeld Guanidino compounds in guanidinoacetate methyltransferase deficiency, a new inborn error of creatine synthesis Metabolism 46 1997 1189 11939
12. A. Schulze, E. Mayatepek, D. Rating, and H.J. Bremer Sakaguchi reaction: a useful method for screening guanidinoacetate-methyltransferase deficiency J Inherit Metab Dis 19 1996 706
13. B. Marescau, P.P. De Deyn, and J. Holvoet Guanidino compounds in serum and urine of cirrhotic patients Metabolism 44 1995 584 588
14. M. Yasuda, K. Sugahara, and J. Zhang Simultaneous determination of creatinine, creatine, and guanidinoacetic acid in human serum and urine using liquid chromatography-atmospheric pressure chemical ionization mass spectrometry Anal Biochem 253 1997 231 235
15. E.A. Struys, E.E. Jansen, H.J. ten Brink, N.M. Verhoeven, M.S. van der Knaap, and C. Jakobs An accurate stable isotope dilution gas chromatographic-mass spectrometric approach to the diagnosis of guanidinoacetate methyltransferase deficiency J Pharm Biomed Anal 18 1998 659 665
16. L.S. Almeida, N.M. Verhoeven, and B. Roos Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport Mol Genet Metab 82 2004 214 219
17. C. Carducci, M. Birarelli, P. Santagata, V. Leuzzi, C. Carducci, and I. Antonozzi Automated high-performance liquid chromatographic method for the determination of guanidinoacetic acid in dried blood spots: a tool for early diagnosis of guanidinoacetate methyltransferase deficiency J Chromatogr, B, Biomed Sci Appl 755 2001 343 348
18. O.A. Bodamer, S.M. Bloesch, A.R. Gregg, S. Stockler-Ipsiroglu, and W.E. O'Brien Analysis of guanidinoacetate and creatine by isotope dilution electrospray tandem mass spectrometry Clin Chim Acta 308 2001 173 178
19. S. Cognat, D. Cheillan, M. Piraud, B. Roos, C. Jakobs, and C. Vianey-Saban Determination of guanidinoacetate and creatine in urine and plasma by liquid chromatography-tandem mass spectrometry Clin Chem 50 2004 1459 1461
20. A. Schulze, T. Hess, and R. Wevers Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism J Pediatr 131 1997 626 631
21. S. Stöckler, U. Holzbach, and F. Hanefeld Creatine deficiency in the brain: a new, treatable inborn error of metabolism Pediatr Res 36 1994 409 413
22. M.S. van der Knaap, N.M. Verhoeven, and P. Maaswinkel-Mooij Mental retardation and behavioral problems as presenting signs of a creatine synthesis defect Ann Neurol 47 2000 540 543
23. N.M. Verhoeven, D.S. Schor, and B. Roos Diagnostic enzyme assay that uses stable-isotope-labeled substrates to detect l-arginine:glycine amidinotransferase deficiency Clin Chem 49 2003 803 805
24. M. Grazia Alessandri, L. Celati, and R. Battini HPLC assay for guanidinoacetate methyltransferase Anal Biochem 331 2004 189 191
25. J. Ilas, A. Muhl, and S. Stöckler-Ipsiroglu Guanidinoacetate methyltransferase (GAMT) deficiency: non-invasive enzymatic diagnosis of a newly recognized inborn error of metabolism Clin Chim Acta 290 2000 179 188
26. N.M. Verhoeven, B. Roos, E.A. Struys, G.S. Salomons, M.S. van der Knaap, and C. Jakobs Enzyme assay for diagnosis of guanidinoacetate methyltransferase deficiency Clin Chem 50 2004 441 443
27. G.S. Salomons, S.J. van Dooren, and N.M. Verhoeven X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome Am J Hum Genet 68 2001 1497 1500
28. C.B. Item, C. Stromberger, and A. Muhl Denaturing gradient gel electrophoresis for the molecular characterization of six patients with guanidinoacetate methyltransferase deficiency Clin Chem 48 5 2002 767 769
29. L. Vilarinho, C. Valongo, and M.L. Cardoso Five new Portuguese patients with guanidinoacetate methyltransferase deficiency: biochemical, enzymatic and molecular data J Inherit Metab Dis 27 Suppl. 1 2004 213
30. H. Caldeira, W. Araújo, and N.M. Smit Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation Am J Hum Genet 133A 2 2005 122 127
31. C.B. Item, S. Mercimek-Mahmutoglu, and R. Battini Characterization of seven novel mutations in seven patients with GAMT deficiency Hum Mutat 23 5 2004 524