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Disease on EC 2.1.1.2 - guanidinoacetate N-methyltransferase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
arginase deficiency
Creatine metabolism in patients with urea cycle disorders.
aromatic-l-amino-acid decarboxylase deficiency
Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC-MS/MS analysis platform.
Brain Diseases
Guanidinoacetate methyltransferase deficiency masquerading as a mitochondrial encephalopathy.
Carcinoma
A short review on creatine-creatine kinase system in relation to cancer and some experimental results on creatine as adjuvant in cancer therapy.
Enzymes of creatine biosynthesis, arginine and methionine metabolism in normal and malignant cells.
Carcinoma, Hepatocellular
Guanidinoacetate methyltransferase activity in tissues and cultured cells.
cathepsin d deficiency
Metabolic epilepsies: approaches to a diagnostic challenge.
Diffuse Cerebral Sclerosis of Schilder
Metabolic epilepsies: approaches to a diagnostic challenge.
Epilepsy
A prevalent pathogenic GAMT mutation (c.59G>C) in Portugal.
A three-tier algorithm for guanidinoacetate methyltransferase (GAMT) deficiency newborn screening.
Brain creatine depletion: guanidinoacetate methyltransferase deficiency (improving with creatine supplementation).
Characterization of seven novel mutations in seven patients with GAMT deficiency.
Evaluation of the mechanism underlying the inhibitory effect of guanidinoacetate on brain Na+, K+-ATPase activity.
Guanidinoacetate methyltransferase (GAMT) deficiency: a rare but treatable epilepsy.
Guanidinoacetate methyltransferase (GAMT) deficiency: late onset of movement disorder and preserved expressive language.
Inborn errors of creatine metabolism and epilepsy: clinical features, diagnosis, and treatment.
Intrastriatal Administration of Guanidinoacetate Inhibits Na(+), K (+)-ATPase and Creatine Kinase Activities in Rat Striatum.
Intrastriatal administration of guanidinoacetate inhibits Na+, K+-ATPase and creatine kinase activities in rat striatum.
Metabolic epilepsies: approaches to a diagnostic challenge.
Systemic availability of guanidinoacetate affects GABAA receptor function and seizure threshold in GAMT deficient mice.
Use of denaturing HPLC to provide efficient detection of mutations causing guanidinoacetate methyltransferase deficiency.
Genetic Diseases, Inborn
LC-MS/MS measurements of urinary guanidinoacetic acid and creatine: Method optimization by deleting derivatization step.
Non-derivatized Assay for the Simultaneous Detection of Amino Acids, Acylcarnitines, Succinylacetone, Creatine, and Guanidinoacetic Acid in Dried Blood Spots by Tandem Mass Spectrometry.
glycine amidinotransferase deficiency
Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology.
Creatine and creatine deficiency syndromes: biochemical and clinical aspects.
Creatine metabolism in urea cycle defects.
Inborn errors of creatine metabolism and epilepsy: clinical features, diagnosis, and treatment.
LC-MS/MS measurements of urinary guanidinoacetic acid and creatine: Method optimization by deleting derivatization step.
glycine n-methyltransferase deficiency
Methyl balance and transmethylation fluxes in humans.
guanidinoacetate n-methyltransferase deficiency
A Japanese Adult Case of Guanidinoacetate Methyltransferase Deficiency.
A pilot study to estimate incidence of guanidinoacetate methyltransferase deficiency in newborns by direct sequencing of the GAMT gene.
An accurate stable isotope dilution gas chromatographic-mass spectrometric approach to the diagnosis of guanidinoacetate methyltransferase deficiency.
Automated high-performance liquid chromatographic method for the determination of guanidinoacetic acid in dried blood spots: a tool for early diagnosis of guanidinoacetate methyltransferase deficiency.
Brain creatine depletion: guanidinoacetate methyltransferase deficiency (improving with creatine supplementation).
Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene.
Case Series of Creatine Deficiency Syndrome due to Guanidinoacetate Methyltransferase Deficiency.
Case study for the evaluation of current treatment recommendations of guanidinoacetate methyltransferase deficiency: ineffectiveness of sodium benzoate.
Central nervous system involvement in gyrate atrophy of the choroid and retina with hyperornithinaemia.
Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology.
Creatine and creatine deficiency syndromes: biochemical and clinical aspects.
Creatine as nutritional supplementation and medicinal product.
Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism.
Creatine Deficiency Syndrome could be Missed Easily: A Case Report of Guanidinoacetate Methyltransferase Deficiency Presented with Neurodevelopmental Delay, Seizures, and Behavioral Changes, but Normal Structural MRI.
Creatine metabolism in patients with urea cycle disorders.
Creatine metabolism in urea cycle defects.
Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error of metabolism.
Cross-talk between guanidinoacetate neurotoxicity, memory and possible neuroprotective role of creatine.
Denaturing gradient gel electrophoresis for the molecular characterization of six patients with guanidinoacetate methyltransferase deficiency.
Enzyme assay for diagnosis of guanidinoacetate methyltransferase deficiency.
Evaluation of the mechanism underlying the inhibitory effect of guanidinoacetate on brain Na+, K+-ATPase activity.
Evaluation of two year treatment outcome and limited impact of arginine restriction in a patient with GAMT deficiency.
Expanded newborn screening by mass spectrometry: New tests, future perspectives.
First reported Chinese case of guanidinoacetate methyltransferase deficiency in a 4-year-old child.
Guanidino compounds in guanidinoacetate methyltransferase deficiency, a new inborn error of creatine synthesis.
Guanidinoacetate administration increases acetylcholinesterase activity in striatum of rats and impairs retention of an inhibitory avoidance task.
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.
Guanidinoacetate methyltransferase (GAMT) deficiency: non-invasive enzymatic diagnosis of a newly recognized inborn error of metabolism.
Guanidinoacetate methyltransferase deficiency (GAMT).
Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation.
Guanidinoacetate methyltransferase deficiency masquerading as a mitochondrial encephalopathy.
Guanidinoacetate methyltransferase deficiency: a newly recognized inborn error of creatine biosynthesis.
Guanidinoacetate methyltransferase deficiency: differences of creatine uptake in human brain and muscle.
Guanidinoacetate methyltransferase deficiency: first steps to newborn screening for a treatable neurometabolic disease.
Guanidinoacetate methyltransferase deficiency: new clinical features.
Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man.
Improving treatment of guanidinoacetate methyltransferase deficiency: reduction of guanidinoacetic acid in body fluids by arginine restriction and ornithine supplementation.
Inborn errors of creatine metabolism and epilepsy: clinical features, diagnosis, and treatment.
Intellectual Disability and Brain Creatine Deficit: Phenotyping of the Genetic Mouse Model for GAMT Deficiency.
Intrastriatal Administration of Guanidinoacetate Inhibits Na(+), K (+)-ATPase and Creatine Kinase Activities in Rat Striatum.
Intrastriatal administration of guanidinoacetate inhibits Na+, K+-ATPase and creatine kinase activities in rat striatum.
Investigation of the contribution of total creatine to the CEST Z-spectrum of brain using a knockout mouse model.
Lack of creatine in muscle and brain in an adult with GAMT deficiency.
LC-MS/MS measurements of urinary guanidinoacetic acid and creatine: Method optimization by deleting derivatization step.
Magnetic resonance imaging reveals specific anatomical changes in the brain of Agat- and Gamt-mice attributed to creatine depletion and guanidinoacetate alteration.
Methyl balance and transmethylation fluxes in humans.
Mild guanidinoacetate increase under partial guanidinoacetate methyltransferase deficiency strongly affects brain cell development.
Neurometabolic disease.
Overexpression of GAMT restores GAMT activity in primary GAMT-deficient fibroblasts.
Prenatal diagnosis of guanidinoacetate methyltransferase deficiency: increased guanidinoacetate concentrations in amniotic fluid.
Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency.
Prospective identification by neonatal screening of patients with guanidinoacetate methyltransferase deficiency.
Severe speech delay as the presenting symptom of guanidinoacetate methyltransferase deficiency.
Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC-MS/MS analysis platform.
Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in the GAMT Gene.
Treatment of arginase deficiency revisited: guanidinoacetate as a therapeutic target and biomarker for therapeutic monitoring.
Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study.
Two new severe mutations causing guanidinoacetate methyltransferase deficiency.
Upregulation of respiratory chain enzymes in guanidinoacetate methyltransferase deficiency.
Use of denaturing HPLC to provide efficient detection of mutations causing guanidinoacetate methyltransferase deficiency.
Gyrate Atrophy
Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC-MS/MS analysis platform.
Heart Diseases
Exploring the protective effects of schizandrol A in acute myocardial ischemia mice by comprehensive metabolomics profiling integrated with molecular mechanism studies.
Hepatolenticular Degeneration
Expanded newborn screening by mass spectrometry: New tests, future perspectives.
Homocystinuria
Biochemical Screening of Intellectually Disabled Patients: A Stepping Stone to Initiate a Newborn Screening Program in Pakistan.
Hyperargininemia
Creatine metabolism in patients with urea cycle disorders.
Intellectual Disability
A prevalent pathogenic GAMT mutation (c.59G>C) in Portugal.
Characterization of seven novel mutations in seven patients with GAMT deficiency.
Evaluation of the mechanism underlying the inhibitory effect of guanidinoacetate on brain Na+, K+-ATPase activity.
Guanidinoacetate Methyltransferase Activity in Lymphocytes, for a Fast Diagnosis.
Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation.
Inborn errors of creatine metabolism and epilepsy: clinical features, diagnosis, and treatment.
Intrastriatal Administration of Guanidinoacetate Inhibits Na(+), K (+)-ATPase and Creatine Kinase Activities in Rat Striatum.
Intrastriatal administration of guanidinoacetate inhibits Na+, K+-ATPase and creatine kinase activities in rat striatum.
Non-derivatized Assay for the Simultaneous Detection of Amino Acids, Acylcarnitines, Succinylacetone, Creatine, and Guanidinoacetic Acid in Dried Blood Spots by Tandem Mass Spectrometry.
Use of denaturing HPLC to provide efficient detection of mutations causing guanidinoacetate methyltransferase deficiency.
l-arginine:l-lysine amidinotransferase deficiency
Creatine and creatine deficiency syndromes: biochemical and clinical aspects.
Language Development Disorders
Feasibility of newborn screening for guanidinoacetate methyltransferase (GAMT) deficiency.
Primary creatine deficiency syndrome as a potential missed diagnosis in children with psychomotor delay and seizure: case presentation with two novel variants and literature review.
Severe speech delay as the presenting symptom of guanidinoacetate methyltransferase deficiency.
Learning Disabilities
Guanidinoacetate methyltransferase (GAMT) deficiency: late onset of movement disorder and preserved expressive language.
Metabolism, Inborn Errors
Health implications of creatine: can oral creatine supplementation protect against neurological and atherosclerotic disease?
methylenetetrahydrofolate dehydrogenase (nad+) deficiency
Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC-MS/MS analysis platform.
Movement Disorders
Brain creatine depletion: guanidinoacetate methyltransferase deficiency (improving with creatine supplementation).
Cloning and sequence analysis of human guanidinoacetate N-methyltransferase cDNA.
Guanidinoacetate methyltransferase (GAMT) deficiency: late onset of movement disorder and preserved expressive language.
Guanidinoacetate Methyltransferase Activity in Lymphocytes, for a Fast Diagnosis.
Inborn errors of creatine metabolism and epilepsy: clinical features, diagnosis, and treatment.
Muscle Hypotonia
Cloning and sequence analysis of human guanidinoacetate N-methyltransferase cDNA.
Severe speech delay as the presenting symptom of guanidinoacetate methyltransferase deficiency.
Muscular Dystrophy, Duchenne
Expanded newborn screening by mass spectrometry: New tests, future perspectives.
Neoplasms
Does TP53 mutation promote ovarian cancer metastasis to omentum by regulating lipid metabolism?
Enzymes of creatine biosynthesis, arginine and methionine metabolism in normal and malignant cells.
Human CD133-positive hematopoietic progenitor cells initiate growth and metastasis of colorectal cancer cells.
The uptake of creatine by various tissues from a mouse bearing tumor cells.
Neuroblastoma
Guanidinoacetate methyltransferase activity in tissues and cultured cells.
Neurodegenerative Diseases
Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene.
Neuroleptic Malignant Syndrome
Coexistence of guanidinoacetate methyltransferase (GAMT) deficiency and neuroleptic malignant syndrome without creatine kinase elevation.
Neuronal Ceroid-Lipofuscinoses
Metabolic epilepsies: approaches to a diagnostic challenge.
ornithine aminotransferase deficiency
Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC-MS/MS analysis platform.
Sarcoma
A short review on creatine-creatine kinase system in relation to cancer and some experimental results on creatine as adjuvant in cancer therapy.
Enzymes of creatine biosynthesis, arginine and methionine metabolism in normal and malignant cells.
Sarcoma 180
A short review on creatine-creatine kinase system in relation to cancer and some experimental results on creatine as adjuvant in cancer therapy.
Enzymes of creatine biosynthesis, arginine and methionine metabolism in normal and malignant cells.
Seizures
Creatine Deficiency Syndrome could be Missed Easily: A Case Report of Guanidinoacetate Methyltransferase Deficiency Presented with Neurodevelopmental Delay, Seizures, and Behavioral Changes, but Normal Structural MRI.
Feasibility of newborn screening for guanidinoacetate methyltransferase (GAMT) deficiency.
Guanidinoacetate Methyltransferase Activity in Lymphocytes, for a Fast Diagnosis.
Severe speech delay as the presenting symptom of guanidinoacetate methyltransferase deficiency.