Clinical Chemistry
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Clinical Chemistry 52: 775-777, 2006; 10.1373/clinchem.2005.065185
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(Clinical Chemistry. 2006;52:775-777.)
© 2006 American Association for Clinical Chemistry, Inc.

Letters to the Editor

Prenatal Diagnosis of Guanidinoacetate Methyltransferase Deficiency: Increased Guanidinoacetate Concentrations in Amniotic Fluid

David Cheillan1,a, Gajja S. Salomons2, Cécile Acquaviva1, Catherine Boisson3, Philippe Roth4, Marie-Pierre Cordier4, Laurence François5, Cornelis Jakobs2 and Christine Vianey-Saban1

1 Service de Biochimie Pédiatrique and
5 Service de Neuropédiatrie Hôpital Debrousse Lyon, France
2 VU University Medical Center Amsterdam, The Netherlands
3 Unité de Biologie Foetomaternelle Centre de Biologie Nord Hôpital de la Croix-Rousse Lyon, France
4 Centre Pluridisciplinaire de Diagnostic Prénatal Hôpital E Herriot Lyon, France

aAddress correspondence to this author at: Service de Biochimie Pédiatrique, Hôpital Debrousse, 29 rue Soeur Bouvier, 69322, Lyon cedex 05, France. Fax 33-4-72-38-58-84; e-mail david.cheillan@chu-lyon.fr.

The first 20% of the full text of this article appears below.


To the Editor:

Guanidinoacetate methyltransferase (GAMT; EC 2.1.1.2) deficiency (OMIM 601240) is an autosomal recessive disorder of creatine biosynthesis, characterized clinically by mental retardation, language delay, extrapyramidal movements, epilepsy, and autistic behavior (1). Biochemically, GAMT deficiency is characterized by depletion of creatine and accumulation of guanidinoacetate (GAA) in the brain and body fluids (2). Treatment by creatine supplementation (combined with arginine restriction and ornithine supplementation) partially restores (~70%) cerebral creatine, reduces seizures, and improves behavior, but it does not reverse the mental retardation (3). We have described a method to measure GAA and creatine in plasma and urine by liquid chromatography–tandem mass spectrometry (LC-MS/MS) (4). In the present study, we validated this method for measurement of GAA and creatine in amniotic fluid, and we report . . . [Full Text of this Article]




The following articles in journals at HighWire Press have cited this article:


Home page
 Ann Clin BiochemHome page
R S Carling, S L Hogg, T C Wood, and J Calvin
Simultaneous determination of guanidinoacetate, creatine and creatinine in urine and plasma by un-derivatized liquid chromatography-tandem mass spectrometry
Ann Clin Biochem, November 1, 2008; 45(6): 575 - 584.
[Abstract] [Full Text] [PDF]


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