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Biochimie, ISSN 0300-9084, 12/2015, Volume 119, pp. 146 - 165
Creatine is physiologically provided equally by diet and by endogenous synthesis from arginine and glycine with successive involvements of arginine glycine... 
GAMT | CRTR | SLC6A8 | AGAT | AMP activated protein kinase | Creatine | Secondary creatine disorders | GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY | OXIDATIVE STRESS | BIOCHEMISTRY & MOLECULAR BIOLOGY | OXYGEN SPECIES GENERATION | UREA CYCLE DISORDERS | MAGNETIC-RESONANCE-SPECTROSCOPY | RAT-KIDNEY TRANSAMIDINASE | LINKED MENTAL-RETARDATION | ACUTE MYOCARDIAL-INFARCTION | TERM-FOLLOW-UP | ARGININE-GLYCINE AMIDINOTRANSFERASE | Amino Acid Transport Systems, Basic - genetics | Humans | Nerve Tissue Proteins - deficiency | Movement Disorders - diagnosis | Amidinotransferases - genetics | Intellectual Disability - metabolism | Biological Transport, Active | Gyrate Atrophy - enzymology | Amino Acid Metabolism, Inborn Errors - genetics | Intellectual Disability - enzymology | Brain Diseases, Metabolic, Inborn - genetics | Hyperammonemia - diagnosis | Hyperammonemia - genetics | Creatine - genetics | Urea Cycle Disorders, Inborn - metabolism | Creatine - biosynthesis | Gyrate Atrophy - genetics | Plasma Membrane Neurotransmitter Transport Proteins - metabolism | Guanidinoacetate N-Methyltransferase - metabolism | Amidinotransferases - metabolism | Plasma Membrane Neurotransmitter Transport Proteins - genetics | Language Development Disorders - enzymology | Urea Cycle Disorders, Inborn - diagnosis | Energy Metabolism | Urea Cycle Disorders, Inborn - enzymology | Movement Disorders - genetics | Mutation | Ornithine - deficiency | Amino Acid Transport Systems, Basic - metabolism | Amino Acid Metabolism, Inborn Errors - enzymology | S-Adenosylmethionine - metabolism | AMP-Activated Protein Kinases - metabolism | Hyperammonemia - metabolism | Developmental Disabilities - metabolism | Guanidinoacetate N-Methyltransferase - genetics | Ornithine - genetics | Developmental Disabilities - genetics | Language Development Disorders - metabolism | Brain Diseases, Metabolic, Inborn - enzymology | Brain Diseases, Metabolic, Inborn - diagnosis | Intellectual Disability - genetics | Amino Acid Metabolism, Inborn Errors - diagnosis | Amino Acid Metabolism, Inborn Errors - metabolism | Mental Retardation, X-Linked - genetics | Mental Retardation, X-Linked - enzymology | Developmental Disabilities - enzymology | Language Development Disorders - diagnosis | Mental Retardation, X-Linked - diagnosis | Movement Disorders - enzymology | Creatine - metabolism | Hyperammonemia - enzymology | Creatine - deficiency | Gyrate Atrophy - diagnosis | Developmental Disabilities - diagnosis | Speech Disorders - diagnosis | Plasma Membrane Neurotransmitter Transport Proteins - deficiency | Speech Disorders - metabolism | Amidinotransferases - deficiency | Brain Diseases, Metabolic, Inborn - metabolism | Language Development Disorders - genetics | Ornithine - metabolism | Gyrate Atrophy - metabolism | Prenatal Diagnosis | Speech Disorders - genetics | Nerve Tissue Proteins - genetics | Nerve Tissue Proteins - metabolism | Amino Acid Transport Systems, Basic - deficiency | Movement Disorders - metabolism | Animals | Urea Cycle Disorders, Inborn - genetics | Guanidinoacetate N-Methyltransferase - deficiency | Intellectual Disability - diagnosis | Movement Disorders - congenital | Speech Disorders - enzymology | Methylation | Mental Retardation, X-Linked - metabolism | Antioxidants | Phosphates | Algorithms | Animal behavior | Physiological aspects | GABA | Glycine | Phosphotransferases | Medical research | Medicine, Experimental | Protein kinases | Life Sciences
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 4/2008, Volume 31, Issue 2, pp. 230 - 239
Creatine deficiency syndromes, either due to AGAT, GAMT or SLC6A8 deficiencies, lead to a complete absence, or a very strong decrease, of creatine within the... 
Biochemistry, general | Human Genetics | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY | LINKED MENTAL-RETARDATION | ARGININE RESTRICTION | ENERGY HOMEOSTASIS | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | IN-SITU HYBRIDIZATION | MAGNETIC-RESONANCE | CLINICAL CHARACTERISTICS | RAT-BRAIN | TRANSPORTER GENE SLC6A8 | INBORN ERROR | Glycine - analogs & derivatives | Glycine - metabolism | Prognosis | Guanidinoacetate N-Methyltransferase - genetics | Humans | Brain - enzymology | Amidinotransferases - genetics | Developmental Disabilities - genetics | Intellectual Disability - genetics | Membrane Transport Proteins - deficiency | Amino Acid Metabolism, Inborn Errors - genetics | Developmental Disabilities - enzymology | Membrane Transport Proteins - genetics | Movement Disorders - enzymology | Intellectual Disability - enzymology | Creatine - deficiency | Amidinotransferases - deficiency | Genetic Predisposition to Disease | Language Development Disorders - genetics | Speech Disorders - genetics | Language Development Disorders - enzymology | Phenotype | Animals | Guanidinoacetate N-Methyltransferase - deficiency | Movement Disorders - congenital | Speech Disorders - enzymology | Movement Disorders - genetics | Amino Acid Metabolism, Inborn Errors - enzymology | Creatine | Central nervous system
Journal Article
Epilepsia, ISSN 0013-9580, 02/2013, Volume 54, Issue 2, pp. 217 - 227
Creatine metabolism disorders include guanidinoacetate methyltransferase (GAMT) deficiency, arginine:glycine amidinotransferase (AGAT) deficiency, and the... 
Guanidinoacetate methyltransferase deficiency | Arginine:glycine amidinotransferase deficiency | Creatine transporter deficiency | Creatine | Epilepsy | MENTAL-RETARDATION | ARGININE RESTRICTION | CEREBROSPINAL-FLUID | CLINICAL NEUROLOGY | AMIDINOTRANSFERASE AGAT DEFICIENCY | GAMT DEFICIENCY | GLYCINE AMIDINOTRANSFERASE | MOUSE MODEL | TRANSPORTER DEFICIENCY | BRAIN | Developmental Disabilities - drug therapy | Speech Disorders - drug therapy | Guanidinoacetate N-Methyltransferase - genetics | Humans | Epilepsy - metabolism | Male | Electroencephalography | Language Development Disorders - metabolism | Epilepsy - etiology | Membrane Transport Proteins - deficiency | Developmental Disabilities - enzymology | Membrane Transport Proteins - genetics | Creatine - metabolism | Intellectual Disability - enzymology | Female | Disease Models, Animal | Brain Diseases, Metabolic, Inborn - complications | Amidinotransferases - deficiency | Language Development Disorders - genetics | Guanidinoacetate N-Methyltransferase - metabolism | Intellectual Disability - drug therapy | Magnetic Resonance Imaging | Movement Disorders - metabolism | Animals | Guanidinoacetate N-Methyltransferase - deficiency | Movement Disorders - congenital | Epilepsy - drug therapy | Speech Disorders - enzymology | Brain Diseases, Metabolic, Inborn - therapy | Movement Disorders - genetics | Amino Acid Metabolism, Inborn Errors - enzymology | Amino Acid Metabolism, Inborn Errors - drug therapy | Neurosciences | Metabolites | Genes | Transferases | Physiological aspects | Amino acids | Seizures (Medicine) | Drug resistance | Mental illness | Brain | EEG | Mental retardation | Fever | Learning | Magnetic resonance spectroscopy | Body fluids | Reviews | Language | Encephalopathy | Development | Convulsions | Guanidinoacetate N-methyltransferase | Movement disorders | Seizures
Journal Article
Pediatric Research, ISSN 0031-3998, 07/2009, Volume 66, Issue 1, pp. 91 - 95
Journal Article
Pediatric Research, ISSN 0031-3998, 06/2006, Volume 59, Issue 6, pp. 840 - 847
Journal Article
Human Pathology, ISSN 0046-8177, 2015, Volume 49, pp. 27 - 32
Summary Complex I deficiency causes Leigh syndrome, fatal infant lactic acidosis, and neonatal cardiomyopathy. Mutations in more than 100 nuclear DNA and... 
Pathology | Metabolic disease | Lethal neonatal lactic acidosis | Whole-exome sequencing | Mitochondriopathy | Complex I deficiency | ACAD9 defect | Mitochondrial hyperplasia | Multiorgan failure | DIAGNOSIS | CARDIOMYOPATHY | PATHOLOGY | GENE | DNA | EXPRESSION | Immunohistochemistry | Fibroblasts - enzymology | Diaphragm - pathology | Mitochondria, Heart - pathology | Electron Transport Complex I - deficiency | Humans | Hyperplasia | Male | Cardiomyopathy, Hypertrophic - enzymology | Acyl-CoA Dehydrogenases - genetics | Leigh Disease - pathology | Muscle Weakness - genetics | Amino Acid Metabolism, Inborn Errors - genetics | Autopsy | DNA Mutational Analysis | Electron Transport Complex I - genetics | Fatal Outcome | Muscle Weakness - pathology | Acyl-CoA Dehydrogenases - deficiency | Amino Acid Metabolism, Inborn Errors - pathology | Kidney Tubules - pathology | Infant, Newborn | Multiple Organ Failure - pathology | Acyl-CoA Dehydrogenase - genetics | Cardiomyopathy, Hypertrophic - genetics | Genetic Predisposition to Disease | Mitochondria, Liver - pathology | Mitochondria, Heart - enzymology | Fibroblasts - pathology | Leigh Disease - genetics | Acidosis, Lactic - pathology | Cardiomyopathy, Hypertrophic - diagnosis | Mitochondrial Diseases - enzymology | Phenotype | Acyl-CoA Dehydrogenase - deficiency | Kidney Tubules - enzymology | Acidosis - diagnosis | Multiple Organ Failure - enzymology | Acidosis - genetics | Amino Acid Metabolism, Inborn Errors - enzymology | Mitochondrial Diseases - pathology | Muscle Weakness - diagnosis | Acidosis, Lactic - genetics | Cause of Death | Acidosis, Lactic - enzymology | Amino Acid Metabolism, Inborn Errors - diagnosis | DNA, Mitochondrial - genetics | Muscle Weakness - enzymology | Transfection | Mitochondrial Diseases - genetics | Mitochondria, Muscle - enzymology | Mitochondria, Muscle - pathology | Leigh Disease - enzymology | Cells, Cultured | Multiple Organ Failure - genetics | Codon, Nonsense | Mitochondria, Liver - enzymology | Multiple Organ Failure - diagnosis | Diaphragm - enzymology | Acidosis - pathology | Leigh Disease - diagnosis | Acidosis - enzymology | Mitochondrial Diseases - diagnosis | Acidosis, Lactic - diagnosis | Cardiomyopathy, Hypertrophic - pathology | Infants (Newborn) | Muscles | Genetic aspects | Mitochondrial DNA | Liver | Heart | Urine | Cytochrome | Antigens | Enzymes | Cytomegalovirus | Cardiomyopathy | Data bases | Defects | Musculoskeletal system | Rodents | Fibroblasts | Oxidation | Mutation | Metabolic disorders | Deoxyribonucleic acid--DNA
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2001, Volume 69, Issue 5, pp. 1127 - 1133
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 1/2018, Volume 41, Issue 1, pp. 39 - 47
Carnosinase (CN1) is a dipeptidase, encoded by the CNDP1 gene, that degrades histidine-containing dipeptides, such as carnosine, anserine and homocarnosine.... 
Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | ANTIOXIDANT ACTIVITY | LEUCINE REPEAT | MEDICINE, RESEARCH & EXPERIMENTAL | HUMAN-SERUM CARNOSINASE | GENE CNDP1 | NEPHROPATHY | SKELETAL-MUSCLE | HOMOCARNOSINE | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | END-PRODUCTS | ASSOCIATION | STAGE RENAL-DISEASE | Diabetic Nephropathies - enzymology | Prognosis | Diabetes Mellitus, Type 2 - genetics | Humans | Brain Diseases, Metabolic, Inborn - epidemiology | Amino Acid Metabolism, Inborn Errors - epidemiology | Brain Diseases, Metabolic, Inborn - enzymology | Diabetic Nephropathies - diagnosis | Brain Diseases, Metabolic, Inborn - diagnosis | Diabetes Mellitus, Type 2 - epidemiology | Protective Factors | Amino Acid Metabolism, Inborn Errors - diagnosis | Dipeptidases - deficiency | Amino Acid Metabolism, Inborn Errors - genetics | Brain Diseases, Metabolic, Inborn - genetics | Dipeptidases - genetics | Risk Factors | Diabetes Mellitus, Type 2 - enzymology | Diabetic Nephropathies - genetics | Polymorphism, Genetic | Diabetes Mellitus, Type 2 - diagnosis | Animals | Diabetic Nephropathies - epidemiology | Mutation | Amino Acid Metabolism, Inborn Errors - enzymology | Type 2 diabetes | Medical research | Medical colleges | Chronic kidney failure | Metabolites | Diabetic nephropathies | Medicine, Experimental | Development and progression | Children | Diseases | Glomerulonephritis | Complications | Syngeneic grafts | Diabetes mellitus | Carnosine | Dipeptidase | Molecular modelling | Nephropathy | Histidine | Rodents | Renal failure | Diabetes | Diabetes mellitus (non-insulin dependent) | Kidney transplantation
Journal Article
Molecular Neurobiology, ISSN 0893-7648, 11/2016, Volume 53, Issue 9, pp. 6459 - 6475
We investigated the effects of an acute intrastriatal QUIN administration on cellular redox and bioenergetics homeostasis, as well as on important signaling... 
Signaling pathways | Neurology | Neurosciences | Energy metabolism | Biomedicine | Glutaric acidemia | Redox homeostasis | Neurobiology | Inflammatory response | Quinolinic acid | Cell Biology | PLASMA-MEMBRANES | 3-HYDROXYGLUTARIC ACID | NMDA RECEPTORS | NITRIC-OXIDE SYNTHASE | FACTOR-KAPPA-B | GLUTAMATE UPTAKE | NEUROSCIENCES | CEREBRAL-CORTEX | PRIMARY NEURONAL CULTURES | ANTIOXIDANT RESPONSE ELEMENT | CREATINE-KINASE | Brain Diseases, Metabolic - pathology | Glutaryl-CoA Dehydrogenase - metabolism | Glutathione - metabolism | Antioxidants - metabolism | Fluoresceins - metabolism | Nitrites - metabolism | NF-kappa B - metabolism | Extracellular Signal-Regulated MAP Kinases - metabolism | Electron Transport Complex IV - metabolism | Amino Acid Metabolism, Inborn Errors - metabolism | Sulfhydryl Compounds - metabolism | Neostriatum - drug effects | Lipid Peroxidation - drug effects | Neostriatum - metabolism | Quinolinic Acid - administration & dosage | Quinolinic Acid - toxicity | Amino Acid Metabolism, Inborn Errors - pathology | Brain Diseases, Metabolic - enzymology | Proto-Oncogene Proteins c-akt - metabolism | Superoxide Dismutase - metabolism | Malondialdehyde - metabolism | Glutathione Peroxidase - metabolism | Neostriatum - pathology | Oxidation-Reduction | Brain Diseases, Metabolic - metabolism | Mice, Knockout | Nitrates - metabolism | Animals | Lactates - metabolism | Diet | Signal Transduction - drug effects | Models, Biological | NF-E2-Related Factor 2 - metabolism | Oxidative Stress - drug effects | Amino Acid Metabolism, Inborn Errors - enzymology | Energy Metabolism - drug effects | Glutaryl-CoA Dehydrogenase - deficiency | Antioxidants | Lysine | Creatine kinase | Glutathione transferase | Physiological aspects | Superoxide | Inflammation | Creatine | Homeostasis | Signal transduction | Oxidative stress | Bioenergetics | Index Medicus
Journal Article