Page last updated: 2024-10-17

creatine and Metabolism, Inborn Errors

creatine has been researched along with Metabolism, Inborn Errors in 40 studies

Metabolism, Inborn Errors: Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.

Research Excerpts

ExcerptRelevanceReference
"Since the first description of a creatine deficiency syndrome, the guanidinoacetate methyltransferase (GAMT) deficiency, in 1994, the two further suspected creatine deficiency syndromes--the creatine transporter (CrT1) defect and the arginine:glycine amidinotransferase (AGAT) deficiency were disclosed."8.82Creatine deficiency syndromes. ( Schulze, A, 2003)
"Among creatine deficiency syndromes, an X-linked condition related to a defective creatine transport into the central nervous system has been described recently."7.71X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8. ( Bizzi, A; Bugiani, M; Danesi, U; Estienne, M; Hunneman, DH; Jakobs, C; Moroni, I; Salomons, GS; Uziel, G, 2002)
"Since the first description of a creatine deficiency syndrome, the guanidinoacetate methyltransferase (GAMT) deficiency, in 1994, the two further suspected creatine deficiency syndromes--the creatine transporter (CrT1) defect and the arginine:glycine amidinotransferase (AGAT) deficiency were disclosed."4.82Creatine deficiency syndromes. ( Schulze, A, 2003)
"Creatine deficiency syndromes are a newly described group of inborn errors of metabolism affecting creatine metabolism."4.82[Creatine deficiency syndromes]. ( Cheillan, D; Cognat, S; Des Portes, V; Vandenberghe, N; Vianey-Saban, C, 2005)
"We determined creatine/creatinine ratio in urine samples from 1600 unrelated male patients with mental retardation and/or autism."3.74Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening. ( Arias, A; Artuch, R; Briones, P; Campistol, J; Corbella, M; Fons, C; García-Villoria, J; Ormazabal, A; Pàmpols, T; Pineda, M; Poo, P; Ribes, A; Salomons, GS; Sempere, A; Vilaseca, MA, 2007)
"Among creatine deficiency syndromes, an X-linked condition related to a defective creatine transport into the central nervous system has been described recently."3.71X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8. ( Bizzi, A; Bugiani, M; Danesi, U; Estienne, M; Hunneman, DH; Jakobs, C; Moroni, I; Salomons, GS; Uziel, G, 2002)
"Creatine plays a central role in energy metabolism and is synthesized in the liver, kidney and pancreas."2.45Clinical applications of creatine supplementation on paediatrics. ( Evangeliou, A; Karagianni, P; Nikolaidis, N; Vasilaki, K, 2009)
"Inborn errors of metabolism have been identified in the three main steps involved in creatine metabolism: arginine:glycine amidinotransferase (AGAT), S-adenosyl-L-methionine:N-guanidinoacetate methyltransferase (GAMT), and the creatine transporter."2.41Health implications of creatine: can oral creatine supplementation protect against neurological and atherosclerotic disease? ( Schulze, A; Wyss, M, 2002)
"In this study five Italian male patients affected by CRTR-D were supplemented with oral L-Arg at a dosage of 300 mg/kg/day divided into 3 doses, for 24-36 months."1.38Neuropsychological profile and clinical effects of arginine treatment in children with creatine transport deficiency. ( Battaglia, FM; Battini, R; Casarano, M; Chilosi, A; Cioni, G; Comparini, A; Leuzzi, V; Mancardi, MM; Schiaffino, C; Tosetti, M, 2012)
"Oral creatine replacement has proved to be effective in one child with an inborn error of GAMT."1.29Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error of metabolism. ( Frahm, J; Hanefeld, F; Stöckler, S, 1996)
"Creatine excretion was measured in two patients with methylmalonic aciduria and two patients with 3-hydroxy-3-methylglutaric aciduria."1.28Creatine metabolism during metabolic perturbations in patients with organic acidurias. ( Chalmers, RA; Davies, SE; Iles, RA; Stacey, TE, 1990)

Research

Studies (40)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's6 (15.00)18.2507
2000's25 (62.50)29.6817
2010's7 (17.50)24.3611
2020's2 (5.00)2.80

Authors

AuthorsStudies
Shi, K1
Zhao, H1
Xu, S1
Han, H1
Li, W1
Gonzalez Melo, M1
Remacle, N1
Cudré-Cung, HP1
Roux, C1
Poms, M1
Cudalbu, C1
Barroso, M1
Gersting, SW1
Feichtinger, RG1
Mayr, JA1
Costanzo, M1
Caterino, M1
Ruoppolo, M1
Rüfenacht, V1
Häberle, J1
Braissant, O1
Ballhausen, D1
Sklirou, E1
Lichter-Konecki, U1
Schulze, A5
Pitt, JJ1
Tzanakos, N1
Nguyen, T1
Campistol, J4
Díez-Juan, M1
Callejón, L1
Fernandez-De Miguel, A1
Casado, M1
Garcia Cazorla, A1
Lozano, R1
Artuch, R4
Fons, C2
Sempere, A3
Arias, A3
López-Sala, A1
Póo, P2
Pineda, M2
Mas, A1
Vilaseca, MA3
Salomons, GS7
Ribes, A3
Morini, C1
Capozzi, P1
Boenzi, S1
Rizzo, C1
Santorelli, FM1
Dionisi-Vici, C1
Evangeliou, A1
Vasilaki, K1
Karagianni, P1
Nikolaidis, N1
Farré, G1
García-Villoria, J2
Rodríguez-Pombo, P1
Desviat, LR1
Merinero, B1
García-Cazorla, A1
Verma, A1
Chilosi, A1
Casarano, M1
Comparini, A1
Battaglia, FM1
Mancardi, MM1
Schiaffino, C1
Tosetti, M3
Leuzzi, V6
Battini, R3
Cioni, G3
Bizzi, A1
Bugiani, M1
Hunneman, DH1
Moroni, I1
Estienne, M1
Danesi, U1
Jakobs, C4
Uziel, G1
Das, AM1
Lücke, T1
Ullrich, K2
Jan, W1
Zimmerman, RA1
Wang, ZJ1
Berry, GT1
Kaplan, PB1
Kaye, EM1
Stromberger, C1
Bodamer, OA1
Stöckler-Ipsiroglu, S2
van Dooren, SJ1
Verhoeven, NM4
Marsden, D1
Schwartz, C1
Cecil, KM2
DeGrauw, TJ2
Renema, WK2
Schmidt, A1
van Asten, JJ1
Oerlemans, F1
Wieringa, B1
Isbrandt, D2
Heerschap, A2
Cheillan, D1
Cognat, S1
Vandenberghe, N1
Des Portes, V1
Vianey-Saban, C1
Boddaert, N1
Ribeiro, M1
Touati, G1
Mention, K1
Valayanopoulos, V1
Nihoul-Fékété, C1
Brunelle, F1
de Lonlay, P1
Alessandrì, MG1
Moro, F1
Bianchi, MC2
Mercimek-Mahmutoglu, S1
Stoeckler-Ipsiroglu, S1
Adami, A1
Appleton, R1
Araújo, HC1
Duran, M1
Ensenauer, R1
Fernandez-Alvarez, E1
Garcia, P1
Grolik, C1
Item, CB1
Marquardt, I2
Mühl, A2
Saelke-Kellermann, RA1
Surtees, R1
van der Knaap, MS1
Vasconcelos, R1
Vilarinho, L1
Wilichowski, E1
Verbruggen, KT1
Knijff, WA1
Soorani-Lunsing, RJ1
Sijens, PE1
Goorhuis-Brouwer, SM1
van Spronsen, FJ1
Brosnan, ME1
Edison, EE1
da Silva, R1
Brosnan, JT1
Alessandri', MG1
Carducci, C3
Antonozzi, I2
Corbella, M1
Ormazabal, A1
Briones, P1
Pàmpols, T1
Kan, HE1
Young, S1
Struys, E1
Wood, T1
Stöckler, S3
Holzbach, U1
Hanefeld, F3
Helms, G1
Requart, M1
Hänicke, W1
Frahm, J2
Schmidt, B1
von Figura, K1
Walter, JH1
Mayatepek, E1
Bachert, P1
Marescau, B1
De Deyn, PP1
Rating, D1
Ilas, J1
Prudente, S1
Mercuri, L1
Ball, WS1
Wong, B1
Chuck, G1
Wyss, M1
Davies, SE1
Iles, RA1
Stacey, TE1
Chalmers, RA1

Clinical Trials (1)

Trial Overview

TrialPhaseEnrollmentStudy TypeStart DateStatus
Neuroimaging and Neuropsychological Outcomes in Urea Cycle Disorders[NCT02935283]56 participants (Anticipated)Observational2016-08-31Recruiting
[information is prepared from clinicaltrials.gov, extracted Sep-2024]

Reviews

11 reviews available for creatine and Metabolism, Inborn Errors

ArticleYear
Inborn Errors of Metabolism with Cognitive Impairment: Metabolism Defects of Phenylalanine, Homocysteine and Methionine, Purine and Pyrimidine, and Creatine.
    Pediatric clinics of North America, 2018, Volume: 65, Issue:2

    Topics: Cognitive Dysfunction; Creatine; Diagnosis, Differential; Homocysteine; Humans; Metabolism, Inborn E

2018
Creatine deficiency syndromes.
    Handbook of clinical neurology, 2013, Volume: 113

    Topics: Child; Creatine; Developmental Disabilities; Humans; Intellectual Disability; Metabolism, Inborn Err

2013
Clinical applications of creatine supplementation on paediatrics.
    Current pharmaceutical biotechnology, 2009, Volume: 10, Issue:7

    Topics: Animals; Child; Creatine; Dietary Supplements; Humans; Metabolic Diseases; Metabolism, Inborn Errors

2009
Inborn errors of creatine metabolism and epilepsy: clinical features, diagnosis, and treatment.
    Journal of child neurology, 2002, Volume: 17 Suppl 3

    Topics: Amidinotransferases; Brain; Child; Clinical Laboratory Techniques; Creatine; Electroencephalography;

2002
Creatine deficiency syndromes.
    Molecular and cellular biochemistry, 2003, Volume: 244, Issue:1-2

    Topics: Administration, Oral; Amidinotransferases; Brain; Child; Chromosomes, Human, X; Creatine; Family Hea

2003
Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism.
    Journal of inherited metabolic disease, 2003, Volume: 26, Issue:2-3

    Topics: Creatine; Glycine; Guanidinoacetate N-Methyltransferase; Humans; Metabolism, Inborn Errors; Methyltr

2003
X-linked creatine transporter defect: an overview.
    Journal of inherited metabolic disease, 2003, Volume: 26, Issue:2-3

    Topics: Biological Transport; Chromosomes, Human, X; Creatine; Female; Genetic Linkage; Humans; Male; Membra

2003
[Creatine deficiency syndromes].
    Revue neurologique, 2005, Volume: 161, Issue:3

    Topics: Amidinotransferases; Animals; Creatine; Guanidinoacetate N-Methyltransferase; Humans; Membrane Trans

2005
[Radiological innovations in the screening and diagnosis of the inborn errors of metabolism].
    Medecine sciences : M/S, 2005, Volume: 21, Issue:11

    Topics: Aldose-Ketose Isomerases; Amidinotransferases; Brain Chemistry; Congenital Hyperinsulinism; Creatine

2005
New insights into creatine function and synthesis.
    Advances in enzyme regulation, 2007, Volume: 47

    Topics: Animals; Creatine; Energy Metabolism; Homocysteine; Humans; Metabolism, Inborn Errors

2007
Health implications of creatine: can oral creatine supplementation protect against neurological and atherosclerotic disease?
    Neuroscience, 2002, Volume: 112, Issue:2

    Topics: Administration, Oral; Animals; Arteriosclerosis; Creatine; Dietary Supplements; Female; Humans; Male

2002

Trials

1 trial available for creatine and Metabolism, Inborn Errors

ArticleYear
Treatment monitoring of brain creatine deficiency syndromes: a 1H- and 31P-MR spectroscopy study.
    AJNR. American journal of neuroradiology, 2007, Volume: 28, Issue:3

    Topics: Amidinotransferases; Brain; Child; Child, Preschool; Creatine; Drug Monitoring; Female; Guanidinoace

2007

Other Studies

28 other studies available for creatine and Metabolism, Inborn Errors

ArticleYear
Treatment efficacy of high-dose creatine supplementation in a child with creatine transporter (SLC6A8) deficiency.
    Molecular genetics & genomic medicine, 2021, Volume: 9, Issue:4

    Topics: Child; Cognition; Creatine; Developmental Disabilities; Dietary Supplements; Drug Tolerance; Humans;

2021
The first knock-in rat model for glutaric aciduria type I allows further insights into pathophysiology in brain and periphery.
    Molecular genetics and metabolism, 2021, Volume: 133, Issue:2

    Topics: Amino Acid Metabolism, Inborn Errors; Animals; Arginine; Brain; Brain Diseases, Metabolic; Creatine;

2021
Newborn screening for guanidinoacetate methyl transferase deficiency.
    Molecular genetics and metabolism, 2014, Volume: 111, Issue:3

    Topics: Arginine; Creatine; Diet; Female; Glycine; Guanidinoacetate N-Methyltransferase; Humans; Intellectua

2014
Inborn error metabolic screening in individuals with nonsyndromic autism spectrum disorders.
    Developmental medicine and child neurology, 2016, Volume: 58, Issue:8

    Topics: Adolescent; Autism Spectrum Disorder; Child; Child, Preschool; Chromatography, High Pressure Liquid;

2016
Arginine supplementation in four patients with X-linked creatine transporter defect.
    Journal of inherited metabolic disease, 2008, Volume: 31, Issue:6

    Topics: Administration, Oral; Adolescent; Age of Onset; Arginine; Child; Chromosomes, Human, X; Creatine; Di

2008
Retinal degeneration.
    Ophthalmology, 2009, Volume: 116, Issue:8

    Topics: Adult; Amino Acid Transport Systems, Basic; Cataract; Citrulline; Consanguinity; Creatine; Diet, Pro

2009
Study of inborn errors of metabolism in urine from patients with unexplained mental retardation.
    Journal of inherited metabolic disease, 2010, Volume: 33, Issue:1

    Topics: Adenylosuccinate Lyase; Adolescent; Adult; Aged; Carnitine; Child; Child, Preschool; Chromium; Cohor

2010
Arginine:glycine amidinotransferase deficiency: a treatable metabolic encephalomyopathy.
    Neurology, 2010, Jul-13, Volume: 75, Issue:2

    Topics: Adult; Amidinotransferases; Creatine; Female; Humans; Male; Metabolism, Inborn Errors; Pedigree

2010
Neuropsychological profile and clinical effects of arginine treatment in children with creatine transport deficiency.
    Orphanet journal of rare diseases, 2012, Jun-19, Volume: 7

    Topics: Arginine; Creatine; Humans; Male; Membrane Transport Proteins; Metabolism, Inborn Errors; Mutation;

2012
X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.
    Annals of neurology, 2002, Volume: 52, Issue:2

    Topics: Administration, Oral; Brain; Creatine; Genetic Linkage; Humans; Infant; Magnetic Resonance Spectrosc

2002
Glutaric aciduria I: creatine supplementation restores creatinephosphate levels in mixed cortex cells from rat incubated with 3-hydroxyglutarate.
    Molecular genetics and metabolism, 2003, Volume: 78, Issue:2

    Topics: Adenine Nucleotides; Animals; Animals, Newborn; Cerebral Cortex; Creatine; Glutarates; Metabolism, I

2003
MR diffusion imaging and MR spectroscopy of maple syrup urine disease during acute metabolic decompensation.
    Neuroradiology, 2003, Volume: 45, Issue:6

    Topics: 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); Amino Acids, Branched-Chain; Aspartic Acid; Basal

2003
MR spectroscopy of muscle and brain in guanidinoacetate methyltransferase (GAMT)-deficient mice: validation of an animal model to study creatine deficiency.
    Magnetic resonance in medicine, 2003, Volume: 50, Issue:5

    Topics: Animals; Brain; Brain Chemistry; Creatine; Glycine; Guanidinoacetate N-Methyltransferase; Hindlimb;

2003
Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotypic expression of the disease.
    The Journal of pediatrics, 2006, Volume: 148, Issue:6

    Topics: Amidinotransferases; Breast Feeding; Creatine; Dietary Supplements; Humans; Infant, Newborn; Magneti

2006
GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis.
    Neurology, 2006, Aug-08, Volume: 67, Issue:3

    Topics: Adolescent; Adult; Child; Creatine; Epilepsy; Female; Glycine; Guanidinoacetate N-Methyltransferase;

2006
Global developmental delay in guanidionacetate methyltransferase deficiency: differences in formal testing and clinical observation.
    European journal of pediatrics, 2007, Volume: 166, Issue:9

    Topics: Amino Acids; Child, Preschool; Creatine; Developmental Disabilities; Guanidinoacetate N-Methyltransf

2007
Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening.
    Clinical biochemistry, 2007, Volume: 40, Issue:16-17

    Topics: Autistic Disorder; Child; Child, Preschool; Creatine; Creatinine; Glycine; Humans; Infant; Intellect

2007
Is ATP elevated in patients with GAMT deficiency?
    AJNR. American journal of neuroradiology, 2008, Volume: 29, Issue:2

    Topics: Amidinotransferases; Brain; Child; Child, Preschool; Creatine; Drug Monitoring; Female; Guanidinoace

2008
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
Creatine deficiency in the brain: a new, treatable inborn error of metabolism.
    Pediatric research, 1994, Volume: 36, Issue:3

    Topics: Arginine; Brain; Creatine; Humans; Infant; Magnetic Resonance Spectroscopy; Male; Metabolism, Inborn

1994
Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man.
    American journal of human genetics, 1996, Volume: 58, Issue:5

    Topics: Alleles; Base Sequence; Child, Preschool; Creatine; Female; Guanidinoacetate N-Methyltransferase; Hu

1996
Two "new" treatable inherited biosynthetic disorders.
    Lancet (London, England), 1996, Aug-31, Volume: 348, Issue:9027

    Topics: Carbohydrate Dehydrogenases; Creatine; Humans; Infant; Male; Metabolism, Inborn Errors; Phosphoglyce

1996
Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error of metabolism.
    Lancet (London, England), 1996, Sep-21, Volume: 348, Issue:9030

    Topics: Basal Ganglia Diseases; Brain; Creatine; Developmental Disabilities; Guanidinoacetate N-Methyltransf

1996
Therapeutic trial of arginine restriction in creatine deficiency syndrome.
    European journal of pediatrics, 1998, Volume: 157, Issue:7

    Topics: Arginine; Child, Preschool; Creatine; Female; Glycine; Guanidinoacetate N-Methyltransferase; Humans;

1998
Guanidinoacetate methyltransferase (GAMT) deficiency: non-invasive enzymatic diagnosis of a newly recognized inborn error of metabolism.
    Clinica chimica acta; international journal of clinical chemistry, 2000, Jan-05, Volume: 290, Issue:2

    Topics: Amniotic Fluid; Cells, Cultured; Chromatography, High Pressure Liquid; Creatine; Female; Fetal Disea

2000
Two new severe mutations causing guanidinoacetate methyltransferase deficiency.
    Molecular genetics and metabolism, 2000, Volume: 71, Issue:4

    Topics: Base Sequence; Cells, Cultured; Child, Preschool; Chromatography, High Pressure Liquid; Creatine; Cr

2000
Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect?
    Annals of neurology, 2001, Volume: 49, Issue:3

    Topics: Brain; Child; Creatine; Humans; Magnetic Resonance Spectroscopy; Male; Metabolism, Inborn Errors

2001
Creatine metabolism during metabolic perturbations in patients with organic acidurias.
    Clinica chimica acta; international journal of clinical chemistry, 1990, Dec-24, Volume: 194, Issue:2-3

    Topics: 3-Hydroxybutyric Acid; Carnitine; Child; Child, Preschool; Creatine; Creatinine; Female; Humans; Hyd

1990