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.
| Excerpt | Relevance | Reference |
|---|---|---|
| "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." | 8.82 | Creatine 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." | 7.71 | X-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." | 4.82 | Creatine 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." | 3.74 | Creatine 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." | 3.71 | X-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." | 2.45 | Clinical 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." | 2.41 | Health 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." | 1.38 | Neuropsychological 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." | 1.29 | Creatine 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." | 1.28 | Creatine metabolism during metabolic perturbations in patients with organic acidurias. ( Chalmers, RA; Davies, SE; Iles, RA; Stacey, TE, 1990) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 6 (15.00) | 18.2507 |
| 2000's | 25 (62.50) | 29.6817 |
| 2010's | 7 (17.50) | 24.3611 |
| 2020's | 2 (5.00) | 2.80 |
| Authors | Studies |
|---|---|
| Shi, K | 1 |
| Zhao, H | 1 |
| Xu, S | 1 |
| Han, H | 1 |
| Li, W | 1 |
| Gonzalez Melo, M | 1 |
| Remacle, N | 1 |
| Cudré-Cung, HP | 1 |
| Roux, C | 1 |
| Poms, M | 1 |
| Cudalbu, C | 1 |
| Barroso, M | 1 |
| Gersting, SW | 1 |
| Feichtinger, RG | 1 |
| Mayr, JA | 1 |
| Costanzo, M | 1 |
| Caterino, M | 1 |
| Ruoppolo, M | 1 |
| Rüfenacht, V | 1 |
| Häberle, J | 1 |
| Braissant, O | 1 |
| Ballhausen, D | 1 |
| Sklirou, E | 1 |
| Lichter-Konecki, U | 1 |
| Schulze, A | 5 |
| Pitt, JJ | 1 |
| Tzanakos, N | 1 |
| Nguyen, T | 1 |
| Campistol, J | 4 |
| Díez-Juan, M | 1 |
| Callejón, L | 1 |
| Fernandez-De Miguel, A | 1 |
| Casado, M | 1 |
| Garcia Cazorla, A | 1 |
| Lozano, R | 1 |
| Artuch, R | 4 |
| Fons, C | 2 |
| Sempere, A | 3 |
| Arias, A | 3 |
| López-Sala, A | 1 |
| Póo, P | 2 |
| Pineda, M | 2 |
| Mas, A | 1 |
| Vilaseca, MA | 3 |
| Salomons, GS | 7 |
| Ribes, A | 3 |
| Morini, C | 1 |
| Capozzi, P | 1 |
| Boenzi, S | 1 |
| Rizzo, C | 1 |
| Santorelli, FM | 1 |
| Dionisi-Vici, C | 1 |
| Evangeliou, A | 1 |
| Vasilaki, K | 1 |
| Karagianni, P | 1 |
| Nikolaidis, N | 1 |
| Farré, G | 1 |
| García-Villoria, J | 2 |
| Rodríguez-Pombo, P | 1 |
| Desviat, LR | 1 |
| Merinero, B | 1 |
| García-Cazorla, A | 1 |
| Verma, A | 1 |
| Chilosi, A | 1 |
| Casarano, M | 1 |
| Comparini, A | 1 |
| Battaglia, FM | 1 |
| Mancardi, MM | 1 |
| Schiaffino, C | 1 |
| Tosetti, M | 3 |
| Leuzzi, V | 6 |
| Battini, R | 3 |
| Cioni, G | 3 |
| Bizzi, A | 1 |
| Bugiani, M | 1 |
| Hunneman, DH | 1 |
| Moroni, I | 1 |
| Estienne, M | 1 |
| Danesi, U | 1 |
| Jakobs, C | 4 |
| Uziel, G | 1 |
| Das, AM | 1 |
| Lücke, T | 1 |
| Ullrich, K | 2 |
| Jan, W | 1 |
| Zimmerman, RA | 1 |
| Wang, ZJ | 1 |
| Berry, GT | 1 |
| Kaplan, PB | 1 |
| Kaye, EM | 1 |
| Stromberger, C | 1 |
| Bodamer, OA | 1 |
| Stöckler-Ipsiroglu, S | 2 |
| van Dooren, SJ | 1 |
| Verhoeven, NM | 4 |
| Marsden, D | 1 |
| Schwartz, C | 1 |
| Cecil, KM | 2 |
| DeGrauw, TJ | 2 |
| Renema, WK | 2 |
| Schmidt, A | 1 |
| van Asten, JJ | 1 |
| Oerlemans, F | 1 |
| Wieringa, B | 1 |
| Isbrandt, D | 2 |
| Heerschap, A | 2 |
| Cheillan, D | 1 |
| Cognat, S | 1 |
| Vandenberghe, N | 1 |
| Des Portes, V | 1 |
| Vianey-Saban, C | 1 |
| Boddaert, N | 1 |
| Ribeiro, M | 1 |
| Touati, G | 1 |
| Mention, K | 1 |
| Valayanopoulos, V | 1 |
| Nihoul-Fékété, C | 1 |
| Brunelle, F | 1 |
| de Lonlay, P | 1 |
| Alessandrì, MG | 1 |
| Moro, F | 1 |
| Bianchi, MC | 2 |
| Mercimek-Mahmutoglu, S | 1 |
| Stoeckler-Ipsiroglu, S | 1 |
| Adami, A | 1 |
| Appleton, R | 1 |
| Araújo, HC | 1 |
| Duran, M | 1 |
| Ensenauer, R | 1 |
| Fernandez-Alvarez, E | 1 |
| Garcia, P | 1 |
| Grolik, C | 1 |
| Item, CB | 1 |
| Marquardt, I | 2 |
| Mühl, A | 2 |
| Saelke-Kellermann, RA | 1 |
| Surtees, R | 1 |
| van der Knaap, MS | 1 |
| Vasconcelos, R | 1 |
| Vilarinho, L | 1 |
| Wilichowski, E | 1 |
| Verbruggen, KT | 1 |
| Knijff, WA | 1 |
| Soorani-Lunsing, RJ | 1 |
| Sijens, PE | 1 |
| Goorhuis-Brouwer, SM | 1 |
| van Spronsen, FJ | 1 |
| Brosnan, ME | 1 |
| Edison, EE | 1 |
| da Silva, R | 1 |
| Brosnan, JT | 1 |
| Alessandri', MG | 1 |
| Carducci, C | 3 |
| Antonozzi, I | 2 |
| Corbella, M | 1 |
| Ormazabal, A | 1 |
| Briones, P | 1 |
| Pàmpols, T | 1 |
| Kan, HE | 1 |
| Young, S | 1 |
| Struys, E | 1 |
| Wood, T | 1 |
| Stöckler, S | 3 |
| Holzbach, U | 1 |
| Hanefeld, F | 3 |
| Helms, G | 1 |
| Requart, M | 1 |
| Hänicke, W | 1 |
| Frahm, J | 2 |
| Schmidt, B | 1 |
| von Figura, K | 1 |
| Walter, JH | 1 |
| Mayatepek, E | 1 |
| Bachert, P | 1 |
| Marescau, B | 1 |
| De Deyn, PP | 1 |
| Rating, D | 1 |
| Ilas, J | 1 |
| Prudente, S | 1 |
| Mercuri, L | 1 |
| Ball, WS | 1 |
| Wong, B | 1 |
| Chuck, G | 1 |
| Wyss, M | 1 |
| Davies, SE | 1 |
| Iles, RA | 1 |
| Stacey, TE | 1 |
| Chalmers, RA | 1 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| Neuroimaging and Neuropsychological Outcomes in Urea Cycle Disorders[NCT02935283] | 56 participants (Anticipated) | Observational | 2016-08-31 | Recruiting | |||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
11 reviews available for creatine and Metabolism, Inborn Errors
| Article | Year |
|---|---|
Inborn Errors of Metabolism with Cognitive Impairment: Metabolism Defects of Phenylalanine, Homocysteine and Methionine, Purine and Pyrimidine, and Creatine.
Topics: Cognitive Dysfunction; Creatine; Diagnosis, Differential; Homocysteine; Humans; Metabolism, Inborn E | 2018 |
Creatine deficiency syndromes.
Topics: Child; Creatine; Developmental Disabilities; Humans; Intellectual Disability; Metabolism, Inborn Err | 2013 |
Clinical applications of creatine supplementation on paediatrics.
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.
Topics: Amidinotransferases; Brain; Child; Clinical Laboratory Techniques; Creatine; Electroencephalography; | 2002 |
Creatine deficiency syndromes.
Topics: Administration, Oral; Amidinotransferases; Brain; Child; Chromosomes, Human, X; Creatine; Family Hea | 2003 |
Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism.
Topics: Creatine; Glycine; Guanidinoacetate N-Methyltransferase; Humans; Metabolism, Inborn Errors; Methyltr | 2003 |
X-linked creatine transporter defect: an overview.
Topics: Biological Transport; Chromosomes, Human, X; Creatine; Female; Genetic Linkage; Humans; Male; Membra | 2003 |
[Creatine deficiency syndromes].
Topics: Amidinotransferases; Animals; Creatine; Guanidinoacetate N-Methyltransferase; Humans; Membrane Trans | 2005 |
[Radiological innovations in the screening and diagnosis of the inborn errors of metabolism].
Topics: Aldose-Ketose Isomerases; Amidinotransferases; Brain Chemistry; Congenital Hyperinsulinism; Creatine | 2005 |
New insights into creatine function and synthesis.
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?
Topics: Administration, Oral; Animals; Arteriosclerosis; Creatine; Dietary Supplements; Female; Humans; Male | 2002 |
1 trial available for creatine and Metabolism, Inborn Errors
| Article | Year |
|---|---|
Treatment monitoring of brain creatine deficiency syndromes: a 1H- and 31P-MR spectroscopy study.
Topics: Amidinotransferases; Brain; Child; Child, Preschool; Creatine; Drug Monitoring; Female; Guanidinoace | 2007 |
28 other studies available for creatine and Metabolism, Inborn Errors
| Article | Year |
|---|---|
Treatment efficacy of high-dose creatine supplementation in a child with creatine transporter (SLC6A8) deficiency.
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.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Arginine; Brain; Brain Diseases, Metabolic; Creatine; | 2021 |
Newborn screening for guanidinoacetate methyl transferase deficiency.
Topics: Arginine; Creatine; Diet; Female; Glycine; Guanidinoacetate N-Methyltransferase; Humans; Intellectua | 2014 |
Inborn error metabolic screening in individuals with nonsyndromic autism spectrum disorders.
Topics: Adolescent; Autism Spectrum Disorder; Child; Child, Preschool; Chromatography, High Pressure Liquid; | 2016 |
Arginine supplementation in four patients with X-linked creatine transporter defect.
Topics: Administration, Oral; Adolescent; Age of Onset; Arginine; Child; Chromosomes, Human, X; Creatine; Di | 2008 |
Retinal degeneration.
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.
Topics: Adenylosuccinate Lyase; Adolescent; Adult; Aged; Carnitine; Child; Child, Preschool; Chromium; Cohor | 2010 |
Arginine:glycine amidinotransferase deficiency: a treatable metabolic encephalomyopathy.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Topics: Autistic Disorder; Child; Child, Preschool; Creatine; Creatinine; Glycine; Humans; Infant; Intellect | 2007 |
Is ATP elevated in patients with GAMT deficiency?
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.
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.
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.
Topics: Alleles; Base Sequence; Child, Preschool; Creatine; Female; Guanidinoacetate N-Methyltransferase; Hu | 1996 |
Two "new" treatable inherited biosynthetic disorders.
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.
Topics: Basal Ganglia Diseases; Brain; Creatine; Developmental Disabilities; Guanidinoacetate N-Methyltransf | 1996 |
Therapeutic trial of arginine restriction in creatine deficiency syndrome.
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.
Topics: Amniotic Fluid; Cells, Cultured; Chromatography, High Pressure Liquid; Creatine; Female; Fetal Disea | 2000 |
Two new severe mutations causing guanidinoacetate methyltransferase deficiency.
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?
Topics: Brain; Child; Creatine; Humans; Magnetic Resonance Spectroscopy; Male; Metabolism, Inborn Errors | 2001 |
Creatine metabolism during metabolic perturbations in patients with organic acidurias.
Topics: 3-Hydroxybutyric Acid; Carnitine; Child; Child, Preschool; Creatine; Creatinine; Female; Humans; Hyd | 1990 |