Prenatal diagnosis of guanidinoacetate methyltransferase deficiency: Increased guanidinoacetate concentrations in amniotic fluid [10]

Clinical Chemistry

Volumn 52, Issue 4, 2006, Pages 775-777

  Cheillan, David ^a   Salomons, Gajja S ^b   Acquaviva, Cécile ^a   Boisson, Catherine ^c   Roth, Philippe ^d   Cordier, Marie Pierre ^d   François, Laurence ^a   Jakobs, Cornelis ^b   Vianey Saban, Christine ^a  

^a HÔPITAL DEBROUSSE   (France)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^c CROIX ROUSSE HOSPITAL   (France)

^d EDOUARD HERRIOT HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CARBON 13; CREATINE; GUANIDINOACETIC ACID; METHYLTRANSFERASE;

AMNIOCENTESIS; AMNION FLUID ANALYSIS; AMNION FLUID LEVEL; AUTOSOMAL RECESSIVE DISORDER; BLOOD LEVEL; CLINICAL LABORATORY; CONTROLLED STUDY; ENZYME DEFICIENCY; EPILEPSY; EXTRAPYRAMIDAL SYMPTOM; FETUS; GAS CHROMATOGRAPHY; GESTATIONAL AGE; HUMAN; ISOTOPE LABELING; LABORATORY TEST; LANGUAGE DISABILITY; LETTER; LIQUID CHROMATOGRAPHY; MAJOR CLINICAL STUDY; MENTAL DEFICIENCY; PLASMA; PREGNANCY; PRENATAL DIAGNOSIS; REFERENCE VALUE; TANDEM MASS SPECTROMETRY; TRISOMY 21;

AMNIOCENTESIS; AMNIOTIC FLUID; CREATINE; FEMALE; FETAL DISEASES; GESTATIONAL AGE; GLYCINE; GUANIDINOACETATE N-METHYLTRANSFERASE; HUMANS; PREGNANCY; REFERENCE VALUES;

EID: 33645459909     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1373/clinchem.2005.065185     Document Type: Letter

References (5)

1. 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.
2. Carducci C, Birarelli M, Leuzzi V, 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 2002;48:1772-8.
3. Schulze A, Ebinger F, Rating D, Mayatepek E. Improving treatment of guanidinoacetate methyltransferase deficiency: reduction of guanidino-acetic acid in body fluids by arginine restriction and ornithine supplementation. Mol Genet Metab 2001;74:413-9.
4. Cognat S, Cheillan D, Piraud M, Roos B, Jakobs C, Vianey-Saban C. Determination of guanidino-acetate and creatine in urine and plasma by liquid chromatography-tandem mass spectrometry. Clin Chem 2004;50:1459-61.
5. 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;18:659-65.