Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms

Orphanet Journal of Rare Diseases

Volumn 7, Issue 1, 2012, Pages

  Cheillan, David ^a   Curt, Marie Joncquel Chevalier ^b   Briand, Gilbert ^b,c   Salomons, Gajja S ^d   Mention Mulliez, Karine ^e   Dobbelaere, Dries ^e   Cuisset, Jean Marie ^e   Lion François, Laurence ^a   Portes, Vincent Des ^a   Chabli, Allel ^f   Valayannopoulos, Vassili ^f   Benoist, Jean François ^g   Pinard, Jean Marc ^h   Simard, Gilles ⁱ   Douay, Olivier ⁱ   Deiva, Kumaran ^j   Afenjar, Alexandra ^k   Héron, Delphine ^l   Rivier, François ^m   Chabrol, Brigitte ⁿ   Prieur, Fabienne ^o   Cartault, François ^p   Pitelet, Gaëlle ^q   Goldenberg, Alice ^r   Bekri, Soumeya ^r   Gerard, Marion ^s   Delorme, Richard ^g   Tardieu, Marc ^s   Porchet, Nicole ^b   Vianey Saban, Christine ^a   Vamecq, Joseph ^b,t   more..

^a HOSPICES CIVILS DE LYON   (France)

^b Centre de Biologie Pathologie   (France)

^c UNIV LILLE   (France)

^d VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^e LILLE UNIVERSITY HOSPITAL   (France)

^f HÔPITAL NECKER ENFANTS MALADES   (France)

^g HÔPITAL ROBERT DEBRÉ   (France)

^h Paris IdF Ouest University   (France)

ⁱ ANGERS UNIVERSITY HOSPITAL   (France)

^j BICÊTRE HOSPITAL   (France)

^k ARMAND TROUSSEAU HOSPITAL   (France)

^l PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^m MONTPELLIER UNIVERSITY HOSPITAL   (France)

ⁿ TIMONE HOSPITAL   (France)

^o HÔPITAL NORD   (France)

^p Centre Hospitalier Departemental Felix Guyon   (France)

^q CENTRE HOSPITALIER UNIVERSITAIRE DE NICE   (France)

^r HÔPITAL CHARLES NICOLLE   (France)

^s CHU Clemenceau   (France)

^t INSERM   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; ARGININE AMIDINOTRANSFERASE; CREATINE; ENZYME; GLYCINE AMIDINOTRANSFERASE; N GUANIDINOACETATEMETHYLTRANSFERASE; TRANSFERASE; UNCLASSIFIED DRUG;

ARTICLE; CHILD; DISABILITY; ENZYME DEFICIENCY; FAMILY; FEMALE; GENE MUTATION; GENE SEQUENCE; HUMAN; INBORN ERROR OF METABOLISM; INTELLECTUAL IMPAIRMENT; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MOSAICISM; NEUROLOGIC DISEASE; PHENOTYPE; PRESCHOOL CHILD; PRIMARY CREATINE DEFICIENCY; PROTON NUCLEAR MAGNETIC RESONANCE; SCHOOL CHILD; SCREENING; X CHROMOSOME LINKED DISORDER;

CREATINE; CREATININE; FEMALE; GLYCINE; HUMANS; MALE; NERVE TISSUE PROTEINS; NERVOUS SYSTEM DISEASES; PLASMA MEMBRANE NEUROTRANSMITTER TRANSPORT PROTEINS; RETROSPECTIVE STUDIES;

EID: 84870890213     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-7-96     Document Type: Article

References (75)

1. Sur la composition chimique du bouillon de viandes (On the chemical composition of meatbroth). Chevreul E, J Pharm Sci Access 1835 21 231 242
2. Creatine in humans with special reference to creatine supplementation. Balsom P, Söderland K, Ekbolm B, Sports Med 1994 18 4 268 280 10.2165/00007256-199418040-00005 7817065 (Pubitemid 24321371)
3. Creatine and creatinine metabolism. Wyss M, Kaddurah-Daouk R, Physiol Rev 2000 80 3 1107 1213 10893433 (Pubitemid 30452013)
4. Health implications of creatine: can oral creatine supplementation protect against neurological and atherosclerotic disease? Wyss M, Schulze A, Neuroscience 2002 112 2 243 260 10.1016/S0306-4522(02)00088-X 12044443 (Pubitemid 34607009)
5. Untersuchungen über Muskel kontraktion en ohne Milchsäure bildung (Muscle contraction without formation of lactic acid). Lundsgaard E, Biochem Z 1930 217 162 177
6. Weitere Untersuchungen fiber Muskel kontraktion en ohne Milchsäure bildung. (Further investigation on muscle contraction without lactate formation). Lundsgaard E, Biochem Z 1930 227 51 83
7. Über die enzymatische aufspaltung der kreatin phosphorsaure; zugleich ein beitrag zum chemismus der muskel kontraktion. (On the enzymic cleavage of creatinephosphate; also a contribution to the chemistry of the muscle contraction). Lohman K, Biochem Z 1934 271 264 277
8. Myosin and adenosine triphosphatase. Engelhardt WA, Lyubimova MN, Nature 1939 144 668 669
9. Functions and effects of creatine in the central nervous system. Andres RH, Ducray AD, Schlattner U, Wallimannb T, Widmer HF, Brain Res Bull 2008 76 4 329 343 10.1016/j.brainresbull.2008.02.035 18502307
10. AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: A review. Braissant O, Henry H, J Inherit Metab Dis 2008 31 2 230 239 10.1007/s10545-008-0826-9 18392746
11. Dissociation of AGAT, GAMT and SLC6A8 in CNS: relevance to creatine deficiency syndromes. Braissant O, Béard E, Torrent C, Henry H, Neurobiol Dis 2010 37 2 423 433 10.1016/j.nbd.2009.10.022 19879361
12. Synthesis and transport of creatine in the CNS: importance for cerebral functions. Béard E, Braissant O, J Neurochem 2010 115 2 297 313 10.1111/j.1471-4159.2010.06935.x 20796169
13. Endogenous synthesis and transport of creatine in the rat brain: an in situ hybridization study. Braissant O, Henry H, Loup M, Eilers B, Bachmann C, Mol Brain Res 2001 86 1-2 193 201 11165387 (Pubitemid 32124774)
14. Creatine and guanidinoacetate transport at blood-brain and blood-cerebrospinal fluid barriers. Braissant O, J Inherit Metab Dis 2012 35 4 655 664 10.1007/s10545-011-9433-2 22252611
15. Pre-symptomatic treatment of creatine biosynthesis defects. Schulze A, Battini R, Subcell Biochem 2007 46 167 181 10.1007/978-1-4020-6486-9-9 18652077
16. Creatine and creatine deficiency syndromes: biochemical and clinical aspects. Nasrallah F, Feki M, Kaabachi N, Pediatr Neurol 2010 42 3 163 171 10.1016/j.pediatrneurol.2009.07.015 20159424
17. Creatine deficiency syndromes. Schulze A, Mol Cell Biochem 2003 244 1-2 143 150 12701824 (Pubitemid 36411067)
18. Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology. Stockler S, Schutz PW, Salomons GS, Subcell Biochem 2007 46 149 166 10.1007/978-1-4020-6486-9-8 18652076
19. Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism. Stromberger C, Bodamer OA, Stöckler-Ipsiroglu S, J Inherit Metab Dis 2003 26 2-3 299 308 12889668 (Pubitemid 36889749)
20. Biochemical and clinical characteristics of creatine deficiency syndromes. Sykut-Cegielska J, Gradowska W, Mercimek-Mahmutoglu S, Stöckler-Ipsiroglu S, Acta Biochim Pol 2004 51 4 875 882 15625559 (Pubitemid 40187559)
21. Arginine: glycine amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotypic expression of the disease. Battini R, Alessandrì MG, Leuzzi V, Moro F, Tosetti M, Bianchi MC, Cioni G, J Pediatr 2006 148 6 828 830 10.1016/j.jpeds.2006.01.043 16769397 (Pubitemid 43870091)
22. 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. Carducci C, Birarelli M, Leuzzi V, Carducci C, Battini R, Cioni G, Antonozzi I, Clin Chem 2002 48 10 1772 1778 12324495
23. Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans. Item CB, Stöckler-Ipsiroglu S, Stromberger C, Mühl A, Alessandrì MG, Bianchi MC, Tosetti M, Fornai F, Cioni G, Am J Hum Genet 2001 69 5 1127 1133 10.1086/323765 11555793 (Pubitemid 33015826)
24. Creatine deficiency syndromes. Mercimek-Mahmutoglu S, Stöckler-Ipsiroglu S, GeneReviews Seattle (WA): University of Washington, Seattle, Pagon RA, Bird TC, Dolan CR, Stephens K, 2009 1993-2010
25. Diagnosis of creatine metabolism disorders by determining creatine and guanidinoacetate in plasma and urine. Sun Q, O'Brien WE, Methods Mol Biol 2010 603 175 185 10.1007/978-1-60761-459-3-17 20077070
26. Analysis of guanidinoacetate and creatine by isotope dilution electrospray tandem mass spectrometry. Bodamer OA, Bloesch SM, Gregg AR, Stockler-Ipsiroglu S, O'Brien WE, Clin Chim Acta 2001 308 1-2 173 178 11412830 (Pubitemid 32537623)
27. Expanded clinical and molecular spectrum of guanidinoacetatemethyltransferase (GAMT) deficiency. Dhar SU, Scaglia F, Li FY, Smith L, Barshop BA, Eng CM, Haas RH, Hunter JV, Lotze T, Maranda B, Willis M, Abdenur JE, Chen E, O'Brien W, Wong LJ, Mol Genet Metab 2009 96 1 38 43 10.1016/j.ymgme.2008.10.008 19027335
28. Defining the pathogenicity of creatine deficiency syndrome. Alcaide P, Merinero B, Ruiz-Sala P, Richard E, Navarrete R, Arias A, Ribes A, Artuch R, Campistol J, Ugarte M, Rodríguez-Pombo P, Hum Mutat 2011 32 3 282 291 10.1002/humu.21421 21140503
29. Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport. Almeida LS, Verhoeven NM, Roos B, Valongo C, Cardoso ML, Vilarinho L, Salomons GS, Jakobs C, Mol Genet Metab 2004 82 3 214 219 10.1016/j.ymgme.2004.05.001 15234334 (Pubitemid 38952654)
30. X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8. Bizzi A, Bugiani M, Salomons GS, Hunneman DH, Moroni I, Estienne M, Danesi U, Jakobs C, Uziel G, Ann Neurol 2002 52 2 227 231 10.1002/ana.10246 12210795 (Pubitemid 34810605)
31. Screening for X-linked creatine transporter (SLC6A8) deficiency via simultaneous determination of urinary creatine to creatinine ratio by tandem mass-spectrometry. Mercimek-Mahmutoglu S, Muehl A, Salomons GS, Neophytou B, Moeslinger D, Struys E, Bodamer OA, Jakobs C, Stockler-Ipsiroglu S, Mol Genet Metab 2009 96 4 273 275 10.1016/j.ymgme.2008.12.020 19188083
32. X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome. Salomons GS, van Dooren SJ, Verhoeven NM, Cecil KM, Ball WS, Degrauw TJ, Jakobs C, Am J Hum Genet 2001 68 6 1497 1500 10.1086/320595 11326334 (Pubitemid 32510625)
33. Creatine transporter deficiency in two adult patients with static encephalopathy. Sempere A, Fons C, Arias A, Rodríguez-Pombo P, Colomer R, Merinero B, Alcaide P, Capdevila A, Ribes A, Artuch R, Campistol J, J Inherit Metab Dis 2009 Short Report #, 158 10.1007/s10545-009-1083-2
34. Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening. Arias A, Corbella M, Fons C, Sempere A, García-Villoria J, Ormazabal A, Poo P, Pineda M, Vilaseca MA, Campistol J, Briones P, Pàmpols T, Salomons GS, Ribes A, Artuch R, Clin Biochem 2007 40 16-17 1328 1331 17825809 (Pubitemid 47566420)
35. Determination of guanidinoacetate and creatine in urine and plasma by liquid chromatography-tandem mass spectrometry. Cognat S, Cheillan D, Piraud M, Roos B, Jakobs C, Vianey-Saban C, Clin Chem 2004 50 8 1459 1461 10.1373/clinchem.2004.034538 15277360 (Pubitemid 38970667)
36. Uber den niederschlag, welchen pikrinsaure in normalen ham erzeugt und ubereineneue reaction des kreatinins. Jaffe M, Z Physiol Chem 1886 10 391 400
37. GC-MS determination of creatinine in human biological fluids as pentafluorobenzyl derivative in clinical studies and biomonitoring: Inter-laboratory comparison in urine with Jaffé, HPLC and enzymatic assays. Tsikas D, Wolf A, Mitschke A, Gutzki FM, Will W, Bader M, J Chromatogr B Analyt Technol Biomed Life Sci 2010 878 27 2582 2592 10.1016/j.jchromb.2010.04. 025 20462809
38. Laboratory diagnosis of defects of creatine biosynthesis and transport. Verhoeven NM, Salomons GS, Jakobs C, Clin Chim Acta 2005 361 1-2 1 9 16169544 (Pubitemid 41382605)
39. Enzyme assay for diagnosis of guanidinoacetatemethyltransferase deficiency. Verhoeven NM, Roos B, Struys EA, Salomons GS, Van Der Knaap MS, Jakobs C, Clin Chem 2004 50 2 441 443 10.1373/clinchem.2003.022764 14752017 (Pubitemid 38156389)
40. LOVD v.2.0: the next generation in gene variant databases. Fokkema IF, Taschner PE, Schaafsma GC, Celli J, Laros JF, den Dunnen JT, Hum Mutat 2011 32 5 557 563 10.1002/humu.21438 21520333
41. Evaluation and management of the child with speech delay. Lung AK, Kao CP, Am Fam Physician 1999 59 11 3121 3128 10392594
42. Warning signs in the development of speech, language, and communication: when to refer to a speech-language pathologist. Wankoff LS, J Child Adolesc Psychiatr Nurs 2011 24 3 175 184 10.1111/j.1744-6171.2011.00292.x 21810134
43. Treatment monitoring of brain creatine deficiency syndromes: a 1H- and 31P-MR spectroscopy study. Bianchi MC, Tosetti M, Battini R, Leuzzi V, Alessandri MG, Carducci C, Antonozzi I, Cioni G, Am J Neuroradiol 2007 28 3 548 554 17353334 (Pubitemid 46481904)
44. Guanidinoacetate methyltransferase deficiency: differences of creatine uptake in human brain and muscle. Ensenauer R, Thiel T, Schwab KO, Tacke U, Stöckler S, Mol Genet Metab 2004 82 3 208 213 10.1016/j.ymgme.2004.04.005 15234333 (Pubitemid 38952653)
45. Guanidinoacetate methyltransferase deficiency (GAMT). Gordon N, Brain Dev 2010 32 2 79 81 10.1016/j.braindev.2009.01.008 19289269
46. Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency. Schulze A, Hoffmann GF, Bachert P, Kirsch S, Salomons GS, Verhoeven NM, Mayatepek E, Neurology 2006 67 4 719 721 10.1212/01.wnl.0000230152.25203.01 16924036 (Pubitemid 44273633)
47. Approche thérapeutique d'une maladie génétique rare le déficit de synthèse en créatine par déficit en guanidinoacétate méthyltransferase. Blanc E, Thèse d'Exercice de Pharmacie (Cheillan D, Thesis Director) 2009 Université Claude Bernard (Lyon, France), http://www.sudoc.fr/145878910, 82 pages 23326902
48. Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect. Valayannopoulos V, Boddaert N, Chabli A, Barbier V, Desguerre I, Philippe A, Afenjar A, Mazzuca M, Cheillan D, Munnich A, de Keyzer Y, Jakobs C, Salomons GS, de Lonlay P, J Inherit Metab Dis 2012 35 1 151 157 10.1007/s10545-011-9358-9 21660517
49. Creatine deficiency syndromes and the importance of creatine synthesis in the brain. Braissant O, Henry H, Béard E, Uldry J, Amino Acids 2011 40 5 1315 1324 10.1007/s00726-011-0852-z 21390529
50. Clinical applications of creatine supplementation on paediatrics. Evangeliou A, Vasilaki K, Karagianni P, Nikolaidis N, Curr Pharm Biotechnol 2009 10 7 683 690 10.2174/138920109789542075 19751179
51. Arginine supplementation in four patients with X-linked creatine transporter defect. Fons C, Sempere A, Arias A, López-Sala A, Póo P, Pineda M, Mas A, Vilaseca MA, Salomons GS, Ribes A, Artuch R, Campistol J, J Inherit Metab Dis 2008 31 6 724 728 10.1007/s10545-008-0902-1 18925426
52. X-linked creatine transporter defect: an overview. Salomons GS, van Dooren SJ, Verhoeven NM, Marsden D, Schwartz C, Cecil KM, De Grauw TJ, Jakobs C, J Inherit Metab Dis 2003 26 2-3 309 318 12889669 (Pubitemid 36889750)
53. Treatment of intractable epilepsy in a female with SLC6A8 deficiency. Mercimek-Mahmutoglu S, Connolly MB, Poskitt KJ, Horvath GA, Lowry N, Salomons GS, Casey B, Sinclair G, Davis C, Jakobs C, Stockler-Ipsiroglu S, Mol Genet Metab 2010 101 4 409 412 10.1016/j.ymgme.2010.08.016 20846889
54. Treatment with L-arginine improves neuropsychological disorders in a child with creatine transporter defect. Chilosi A, Leuzzi V, Battini R, Tosetti M, Ferretti G, Comparini A, Casarano M, Moretti E, Alessandri MG, Bianchi MC, Cioni G, Neurocase 2008 14 2 151 161 10.1080/13554790802060821 18569740 (Pubitemid 351974035)
55. Neuropsychological profile and clinical effects of arginine treatment in children with creatine transport deficiency. Chilosi A, Casarano M, Comparini A, Battaglia FM, Mancardi MM, Schiaffino C, Tosetti M, Leuzzi V, Battini R, Cioni G, Orphanet J Rare Dis 2012 7 1 43 10.1186/1750-1172-7-43 22713831
56. X-linked CT (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology. Clark AJ, Rosenberg EH, Almeida LS, Wood TC, Jakobs C, Stevenson RE, Schwartz CE, Salomons GS, Hum Genet 2006 119 6 604 610 10.1007/s00439-006-0162-9 16738945 (Pubitemid 43805836)
57. High frequency of creatine deficiency syndromes in patients with unexplained mental retardation. Lion-François L, Cheillan D, Pitelet G, Acquaviva-Bourdain C, Bussy G, Cotton F, Guibaud L, Gérard D, Rivier C, Vianey-Saban C, Jakobs C, Salomons GS, des Portes V, Neurology 2006 67 9 1713 1714 10.1212/01.wnl.0000239153.39710.81 17101918 (Pubitemid 44747959)
58. Incidence of brain CT deficiency in males with developmental delay referred for brain magnetic resonance imaging. Newmeyer A, Cecil KM, Schapiro M, Clark JF, Degrauw TJ, J Dev Behav Pediatr 2005 26 4 276 282 10.1097/00004703-200508000-00003 16100500 (Pubitemid 41272187)
59. High prevalence of SLC6A8 deficiency in X-linked mental retardation. Rosenberg EH, Almeida LS, Kleefstra T, De Grauw RS, Yntema HG, Bahi N, Moraine C, Ropers HH, Fryns JP, De Grauw TJ, Jakobs C, Salomons GS, Am J Hum Genet 2004 75 1 97 105 10.1086/422102 15154114 (Pubitemid 38801905)
60. Comparative frequency of fragile-X (FMR1) and creatine transporter (SLC6A8) mutations in X-linked mental retardation. Mandel JL, Am J Hum Genet 2004 75 4 730 731 10.1086/424821 15338463 (Pubitemid 39244789)
61. Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database. Betsalel OT, Rosenberg EH, Almeida LS, Kleefstra T, Schwartz CE, Valayannopoulos V, Abdul-Rahman O, Poplawski N, Vilarinho L, Wolf P, den Dunnen JT, Jakobs C, Salomons GS, Eur J Hum Genet 2011 19 1 56 63 10.1038/ejhg.2010.134 20717164
62. Clinical features and X-inactivation in females heterozygous for creatine transporter defect. van de Kamp JM, Mancini GM, Pouwels PJ, Betsalel OT, van Dooren SJ, de Koning I, Steenweg ME, Jakobs C, van der Knaap MS, Salomons GS, Clin Genet 2011 79 3 264 272 10.1111/j.1399-0004.2010.01460.x 20528887
63. Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation. Caldeira Araújo H, Smit W, Verhoeven NM, Salomons GS, Silva S, Vasconcelos R, Tomás H, Tavares De Almeida I, Jakobs C, Duran M, Am J Med Genet A 2005 133A 2 122 127 10.1002/ajmg.a.30226 15651030 (Pubitemid 40279776)
64. Congenital creatine transporter deficiency. De Grauw TJ, Salomons GS, Cecil KM, Chuck G, Newmeyer A, Schapiro MB, Jakobs C, Neuropediatrics 2002 33 5 232 238 10.1055/s-2002-36743 12536364 (Pubitemid 36134196)
65. Epilepsy spectrum in cerebral creatine transporter deficiency. Fons C, Sempere A, Sanmartí FX, Arias A, Póo P, Pineda M, Ribes A, Merinero B, Vilaseca MA, Salomons GS, Artuch R, Campistol J, Epilepsia 2009 50 9 2168 2170 10.1111/j.1528-1167.2009.02142.x 19706062
66. Inhibition of arginine-glycine amidinotransferase by ornithine. A possible mechanism for the muscular and chorioretinal atrophies in gyrate atrophy of the choroid and retina with hyperornithinemia. Sipilä I, Biochim Biophys Acta 1980 613 1 79 84 10.1016/0005-2744(80)90194-1 7378422 (Pubitemid 10041365)
67. Secondary creatine deficiency in ornithine delta-aminotransferase deficiency. Valayannopoulos V, Boddaert N, Mention K, Touati G, Barbier V, Chabli A, Sedel F, Kaplan J, Dufier JL, Seidenwurm D, Rabier D, Saudubray JM, de Lonlay P, Mol Genet Metab 2009 97 2 109 113 10.1016/j.ymgme.2008.12.010 19345633
68. Guanidinoacetate and creatine/creatinine levels in controls and patients with urea cycle defects. Arias A, Garcia-Villoria J, Ribes A, Mol Genet Metab 2004 82 3 220 223 10.1016/j.ymgme.2004.04.009 15234335 (Pubitemid 38952655)
69. Ammonia toxicity to the brain: effects on creatine metabolism and transport and protective roles of creatine. Braissant O, Mol Genet Metab 2010 100 Suppl 1 53 S58 20227315
70. Creatine metabolism and the urea cycle. Brosnan JT, Brosnan ME, Mol Genet Metab 2010 100 Suppl 1 49 S52 20304692
71. Usefulness of magnetic resonance spectroscopy in urea cycle disorders. Roze E, Azuar C, Menuel C, Haberle J, Guillevin R, Pediatr Neurol 2007 37 3 222 225 10.1016/j.pediatrneurol.2007.05.003 17765814 (Pubitemid 47321058)
72. S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism. Baric I, Fumic K, Glenn B, Cuk M, Schulze A, Finkelstein JD, James SJ, Mejaski-Bosnjak V, Pazanin L, Pogribny IP, Rados M, Sarnavka V, Scukanec-Spoljar M, Allen RH, Stabler S, Uzelac L, Vugrek O, Wagner C, Zeisel S, Mudd SH, Proc Natl Acad Sci USA 2004 101 12 4234 4239 10.1073/pnas.0400658101 15024124 (Pubitemid 38405912)
73. Creatine metabolism in combined methylmalonicaciduria and homocystinuria. Bodamer OA, Sahoo T, Beaudet AL, O'Brien WE, Bottiglieri T, Stockler-Ipsiroglu S, Wagner C, Scaglia F, Ann Neurol 2005 57 4 557 560 10.1002/ana.20419 15786446 (Pubitemid 40471167)
74. Increased guanidino species in murine and human succinate semialdehyde dehydrogenase (SSADH) deficiency. Jansen EE, Verhoeven NM, Jakobs C, Schulze A, Senephansiri H, Gupta M, Snead OC, Gibson KM, Biochim Biophys Acta 2006 1762 4 494 498 10.1016/j.bbadis.2006.01.006 16504488 (Pubitemid 43344312)
75. Rise in brain GABA to further stress the metabolic link between valproate and creatine. Vamecq J, Joncquel-Chevalier Curt M, Mention-Mulliez K, Dobbelaere D, Briand G, Mol Genet Metab 2011 102 2 232 234 10.1016/j.ymgme.2010. 10.006 21056934