Page last updated: 2024-10-18

glycocyamine and Syndrome

glycocyamine has been researched along with Syndrome in 11 studies

glycocyamine: RN given refers to parent cpd; structure
guanidinoacetate : A monocarboxylic acid anion that is the conjugate base of guanidinoacetic acid, obtained by deprotonation of the carboxy group.
guanidinoacetic acid : The N-amidino derivative of glycine.

Syndrome: A characteristic symptom complex.

Research Excerpts

ExcerptRelevanceReference
"Cerebral creatine deficiency syndromes (CCDSs) are a group of inborn errors of creatine metabolism comprising two autosomal recessive disorders that affect the biosynthesis of creatine--i."8.84Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology. ( Salomons, GS; Schutz, PW; Stockler, S, 2007)
"Cerebral creatine deficiency syndromes are caused by the dysfunctional creatine biosynthesis or transport and comprise three hereditary neurodevelopmental defects including arginine-glycine amidinotransferase (AGAT), guanidinoacetate methyltransferase (GAMT), and creatine transporter deficiencies."8.12Laboratory Diagnosis of Cerebral Creatine Deficiency Syndromes by Determining Creatine and Guanidinoacetate in Plasma and Urine. ( Liu, N; Sun, Q, 2022)
" Creatine deficiency syndrome (CDS) is one form of inborn error of metabolism where affected individuals have similar clinical features to individuals with ASD."7.76Is there a role for routinely screening children with autism spectrum disorder for creatine deficiency syndrome? ( Angley, MT; Gerber, JP; McKinnon, RA; Sorich, MJ; Wang, L; Young, RL, 2010)
"To further facilitate the diagnosis of creatine deficiency syndromes (CDS) a modified method was developed for the quantification of urinary creatine and guanidinoacetoacetate using gas chromatography/mass spectrometry (GC/MS) and having the additional advantage of using the same derivatizing agents, column and equipment usually used for the diagnosis of the organic acidurias in the clinical biochemistry laboratories."7.76GC/MS determination of guanidinoacetate and creatine in urine: A routine method for creatine deficiency syndrome diagnosis. ( Briand, G; Feki, M; Kaabachi, N; Nasrallah, F, 2010)
"Cerebral creatine deficiency syndromes (CCDSs) are a group of inborn errors of creatine metabolism comprising two autosomal recessive disorders that affect the biosynthesis of creatine--i."4.84Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology. ( Salomons, GS; Schutz, PW; Stockler, S, 2007)
"Cerebral creatine deficiency syndromes are caused by the dysfunctional creatine biosynthesis or transport and comprise three hereditary neurodevelopmental defects including arginine-glycine amidinotransferase (AGAT), guanidinoacetate methyltransferase (GAMT), and creatine transporter deficiencies."4.12Laboratory Diagnosis of Cerebral Creatine Deficiency Syndromes by Determining Creatine and Guanidinoacetate in Plasma and Urine. ( Liu, N; Sun, Q, 2022)
" Creatine deficiency syndrome (CDS) is one form of inborn error of metabolism where affected individuals have similar clinical features to individuals with ASD."3.76Is there a role for routinely screening children with autism spectrum disorder for creatine deficiency syndrome? ( Angley, MT; Gerber, JP; McKinnon, RA; Sorich, MJ; Wang, L; Young, RL, 2010)
"To further facilitate the diagnosis of creatine deficiency syndromes (CDS) a modified method was developed for the quantification of urinary creatine and guanidinoacetoacetate using gas chromatography/mass spectrometry (GC/MS) and having the additional advantage of using the same derivatizing agents, column and equipment usually used for the diagnosis of the organic acidurias in the clinical biochemistry laboratories."3.76GC/MS determination of guanidinoacetate and creatine in urine: A routine method for creatine deficiency syndrome diagnosis. ( Briand, G; Feki, M; Kaabachi, N; Nasrallah, F, 2010)
"Creatine plays an important role in the storage and transmission of phosphate-bound energy."1.35Simultaneous determination of guanidinoacetate, creatine and creatinine in urine and plasma by un-derivatized liquid chromatography-tandem mass spectrometry. ( Calvin, J; Carling, RS; Hogg, SL; Wood, TC, 2008)

Research

Studies (11)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's7 (63.64)29.6817
2010's3 (27.27)24.3611
2020's1 (9.09)2.80

Authors

AuthorsStudies
Liu, N1
Sun, Q1
Stockler, S1
Schutz, PW1
Salomons, GS2
Carling, RS1
Hogg, SL1
Wood, TC1
Calvin, J1
Braissant, O1
Béard, E1
Torrent, C1
Henry, H1
Wang, L1
Angley, MT1
Sorich, MJ1
Young, RL1
McKinnon, RA1
Gerber, JP1
Nasrallah, F1
Feki, M1
Briand, G1
Kaabachi, N1
Almeida, LS1
Verhoeven, NM2
Roos, B1
Valongo, C1
Cardoso, ML1
Vilarinho, L1
Jakobs, C2
Sijens, PE2
Verbruggen, KT2
Meiners, LC1
Soorani-Lunsing, RJ2
Rake, JP1
Oudkerk, M2
van Spronsen, FJ1
Young, S1
Struys, E1
Wood, T1
Guérand, WS1
Struys, EA1
Bouman, AA1
van der Knaap, MS1

Reviews

1 review available for glycocyamine and Syndrome

ArticleYear
Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology.
    Sub-cellular biochemistry, 2007, Volume: 46

    Topics: Adult; Amidinotransferases; Animals; Brain Diseases, Metabolic, Inborn; Cerebellar Diseases; Child;

2007

Other Studies

10 other studies available for glycocyamine and Syndrome

ArticleYear
Laboratory Diagnosis of Cerebral Creatine Deficiency Syndromes by Determining Creatine and Guanidinoacetate in Plasma and Urine.
    Methods in molecular biology (Clifton, N.J.), 2022, Volume: 2546

    Topics: Creatine; Glycine; Guanidinoacetate N-Methyltransferase; Humans; Infant, Newborn; Neonatal Screening

2022
Simultaneous determination of guanidinoacetate, creatine and creatinine in urine and plasma by un-derivatized liquid chromatography-tandem mass spectrometry.
    Annals of clinical biochemistry, 2008, Volume: 45, Issue:Pt 6

    Topics: Adult; Blood Chemical Analysis; Brain Diseases, Metabolic, Inborn; Child; Child, Preschool; Chromato

2008
Dissociation of AGAT, GAMT and SLC6A8 in CNS: relevance to creatine deficiency syndromes.
    Neurobiology of disease, 2010, Volume: 37, Issue:2

    Topics: Amidinotransferases; Animals; Brain Diseases, Metabolic, Inborn; Brain Mapping; Cell Count; Cells, C

2010
Is there a role for routinely screening children with autism spectrum disorder for creatine deficiency syndrome?
    Autism research : official journal of the International Society for Autism Research, 2010, Volume: 3, Issue:5

    Topics: Biomarkers; Brain Diseases, Metabolic, Inborn; Child; Child Development Disorders, Pervasive; Chroma

2010
GC/MS determination of guanidinoacetate and creatine in urine: A routine method for creatine deficiency syndrome diagnosis.
    Clinical biochemistry, 2010, Volume: 43, Issue:16-17

    Topics: Adolescent; Adult; Brain Diseases, Metabolic, Inborn; Calibration; Child; Child, Preschool; Chromato

2010
Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport.
    Molecular genetics and metabolism, 2004, Volume: 82, Issue:3

    Topics: Adolescent; Adult; Age Factors; Aged; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool;

2004
1H chemical shift imaging of the brain in guanidino methyltransferase deficiency, a creatine deficiency syndrome; guanidinoacetate accumulation in the gray matter.
    European radiology, 2005, Volume: 15, Issue:9

    Topics: Aspartic Acid; Brain Chemistry; Child, Preschool; Choline; Creatine; Glutamic Acid; Glycine; Guanidi

2005
1H MR spectroscopy of the brain in Cr transporter defect.
    Molecular genetics and metabolism, 2005, Volume: 86, Issue:3

    Topics: Brain; Creatine; Glycine; Humans; Magnetic Resonance Spectroscopy; Male; Membrane Transport Proteins

2005
Quantification of creatine and guanidinoacetate using GC-MS and LC-MS/MS for the detection of cerebral creatine deficiency syndromes.
    Current protocols in human genetics, 2007, Volume: Chapter 17

    Topics: Chromatography, High Pressure Liquid; Creatine; Gas Chromatography-Mass Spectrometry; Glycine; Human

2007
Plasma creatinine assessment in creatine deficiency: A diagnostic pitfall.
    Journal of inherited metabolic disease, 2000, Volume: 23, Issue:8

    Topics: Creatinine; Diagnostic Errors; Glycine; Guanidinoacetate N-Methyltransferase; Humans; Methyltransfer

2000