Guanidinoacetate and creatine/creatinine levels in controls and patients with urea cycle defects

Molecular Genetics and Metabolism

Volumn 82, Issue 3, 2004, Pages 220-223

  Arias, Angela ^a,b   Garcia Villoria, Judit ^a   Ribes, Antonia ^a  

^a Institut de Bioquimica Clinica Barcelona   (Spain)

^b Centro de Desarrollo Infantil   (Venezuela)

Author keywords

AGAT; GAMT; GC MS; Guanidinoacetate; Urea cycle defects

Indexed keywords

CREATINE; CREATININE; GUANIDINOACETIC ACID; NITRIC OXIDE; PROTEIN; STABLE ISOTOPE;

ACCURACY; ADULT; ANALYTIC METHOD; ARTICLE; CLINICAL ARTICLE; CONCENTRATION (PARAMETERS); CONTROLLED STUDY; CREATININE BLOOD LEVEL; DIET SUPPLEMENTATION; FOLLOW UP; GAS CHROMATOGRAPHY; HUMAN; MASS SPECTROMETRY; PARAMETER; PLASMA; PRIORITY JOURNAL; STANDARD; TECHNIQUE; UREA CYCLE; URINE;

AGE FACTORS; AMINO ACID METABOLISM, INBORN ERRORS; CHILD; CHILD, PRESCHOOL; CREATINE; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; GLYCINE; HUMANS; REFERENCE VALUES; SENSITIVITY AND SPECIFICITY; SPAIN; UREA;

EID: 3242738630     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ymgme.2004.04.009     Document Type: Article

References (17)

1. Bianchi M.C., Tosetti M., Fornai F., Alessandri M.G., Cipriani P., De Vito G., Canapicchi R. Reversible brain creatine deficiency in two sisters with normal blood creatine level. Ann. Neurol. 47:2000;511-513
2. Salomons G.S., van Dooren S.J.M., 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. 68:2001;1497-1500
3. Stromberger C., Bodamer O.A., Stockler-Ipsiroglu S. Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism. J. Inherit. Metab. Dis. 26:2003;299-308
4. Item C.B., Stockler-Ipsiroglu S., Stromberger C., Muhl 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. 69:2001;1127-1133
5. Hahn K.A., Salomons G.S., Tackels-Horne D., Wood T.C., Taylor H.A., Schroer R.J., Lubs H.A., Jakobs C., Olson R.L., Holden K.R., Stevenson R.E., Schwartz C.E. X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28. Am. J. Hum. Genet. 70:2002;1349-1356
6. Carducci C., Birarelli M., Leuzzi V., Carducci C., Battini R., Cioni G., Antonozzi I. 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
7. Bodamer O.A., Bloesch S.M., Gregg A.R., Stöckler-Ipsiroglu S., O'Brien W.E. Analysis of guanidinoacetate and creatine by isotope dilution electrospray tandem mass spectrometry. Clin. Chim. Acta. 308:2001;173-178
8. Hunneman D.H., Hanefeld F. GC-MS determination of guanidinoacetate in urine and plasma. J. Inherit. Metab. Dis. 20:1997;450-452
9. Struys E.A., Jansen E.E., ten Brink H.J., Verhoeven N.M., van der Knaap M.S., Jakobs C. 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
10. Stöckler S., Isbrand D., Hanefeld F., Schmidt B., von Figura K. Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man. Pediatr. Am. J. Hum. Genet. 58:1996;914-922
11. Stöckler S., Marescau B., De Deyn P.P., Trijbels J.M., Hanefeld F. Guanidino compounds in guanidinoacetate methyltransferase deficiency, a new inborn error of creatine synthesis. Metabolism. 46:1997;1189-1193
12. Ilas J., Mühl A., Stöckler-Ipsiroglu S. Guanidinoacetate methyltransferase (GAMT) deficiency: non-invasive enzymatic diagnosis of a newly recognised inborn error of metabolism. Clin. Chim. Acta. 290:2000;179-188
13. 15N-arginine to guanidino compounds. Mori A., Cohen B.D., Lowenthal A. Guanidines. 1985;71-81 Plenum Press, New York
14. Ratnakumari L., Qureshi I.A., Butterworth R.F., Marescau B., De Deyn P.P. Arginine-related guanidino compounds and nitric oxide synthase in brain of ornithine transcarbamylase deficient spf mutant mouse: effect of metabolic arginine deficiency. Neurosci. Lett. 215:1996;153-156
15. Braissant O., Henry H., Villard A.M., Zurich M.G., Loup M., Eliers B., Parlascino G., Matter E., Boulat O., Honegger P., Bachmann C. Ammonium-induced impairment of axonal growth is prevented through glial creatine. J. Neurosci. 22:2002;9810-9820
16. Rodés M., Ribes A., Pineda M., Alvarez L., Fabregas I., Fernandez Alvarez E., Coude F.X., Grimber G. A new family affected by the syndrome of hyperornithinaemia, hyperammonaemia and homocitrullinuria. J. Inherit. Metab. Dis. 10:1987;73-81
17. Dionisi Vici C., Bachmann C., Gambarara M., Colombo J.P., Sabetta G. Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: low creatine excretion and effect of citrulline, arginine supplement. Pediatr. Res. 22:1987;364-367