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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
The American Journal of Human Genetics, ISSN 0002-9297, 2001, Volume 69, Issue 5, pp. 1127 - 1133
Journal Article
Genetics in Medicine, ISSN 1098-3600, 02/2017, Volume 19, Issue 2, pp. 256 - 263
Cerebral creatine deficiency syndromes are neurometabolic conditions characterized by intellectual disability, seizures, speech delay, and behavioral... 
GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY | ARGININEGLYCINE AMIDINOTRANSFERASE | neurometabolic disorders | CLINICAL-FEATURES | creatine deficiency | TANDEM MASS-SPECTROMETRY | INBORN ERROR | interpretation and reporting | AMIDINOTRANSFERASE AGAT DEFICIENCY | SLC6A8 DEFICIENCY | GAMT DEFICIENCY | LINKED MENTAL-RETARDATION | ACMG laboratory guideline | clinical biochemical genetic testing | GENETICS & HEREDITY | TRANSPORTER DEFICIENCY | Creatine - cerebrospinal fluid | Plasma Membrane Neurotransmitter Transport Proteins - blood | Intellectual Disability - cerebrospinal fluid | Mental Retardation, X-Linked - cerebrospinal fluid | Genomics | Humans | Amino Acid Metabolism, Inborn Errors - cerebrospinal fluid | Amidinotransferases - genetics | Intellectual Disability - urine | Plasma Membrane Neurotransmitter Transport Proteins - cerebrospinal fluid | Intellectual Disability - blood | Amidinotransferases - cerebrospinal fluid | Amino Acid Metabolism, Inborn Errors - genetics | Guanidinoacetate N-Methyltransferase - urine | Amidinotransferases - blood | Developmental Disabilities - cerebrospinal fluid | Brain Diseases, Metabolic, Inborn - genetics | Speech Disorders - blood | Repressor Proteins - urine | Language Development Disorders - cerebrospinal fluid | Creatine - genetics | Genetic Testing - standards | Mental Retardation, X-Linked - blood | Brain Diseases, Metabolic, Inborn - cerebrospinal fluid | Repressor Proteins - genetics | Movement Disorders - blood | Amino Acid Metabolism, Inborn Errors - blood | Developmental Disabilities - urine | Plasma Membrane Neurotransmitter Transport Proteins - genetics | Amidinotransferases - urine | Movement Disorders - genetics | Speech Disorders - cerebrospinal fluid | Brain Diseases, Metabolic, Inborn - blood | Developmental Disabilities - blood | Mental Retardation, X-Linked - urine | Guidelines as Topic | Language Development Disorders - blood | Genetics, Medical - standards | Guanidinoacetate N-Methyltransferase - genetics | Movement Disorders - urine | Developmental Disabilities - genetics | Creatine - blood | Intellectual Disability - genetics | Mental Retardation, X-Linked - genetics | Guanidinoacetate N-Methyltransferase - cerebrospinal fluid | Speech Disorders - urine | Amino Acid Metabolism, Inborn Errors - urine | Creatine - metabolism | Creatine - deficiency | Guanidinoacetate N-Methyltransferase - blood | Plasma Membrane Neurotransmitter Transport Proteins - deficiency | Amidinotransferases - deficiency | Movement Disorders - cerebrospinal fluid | Creatine - urine | Language Development Disorders - genetics | Brain Diseases, Metabolic, Inborn - urine | Repressor Proteins - blood | Speech Disorders - genetics | Language Development Disorders - urine | Plasma Membrane Neurotransmitter Transport Proteins - urine | Repressor Proteins - cerebrospinal fluid | Clinical Laboratory Techniques - methods | Guanidinoacetate N-Methyltransferase - deficiency | Movement Disorders - congenital
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 12/2015, Volume 116, Issue 4, pp. 252 - 259
Arginine:glycine aminotransferase (AGAT) ( ) deficiency is an autosomal recessive inborn error of creative synthesis. We performed an international survey... 
GATM | Cerebral creatine deficiency | Intellectual disability | Myopathy | MEDICINE, RESEARCH & EXPERIMENTAL | INBORN ERROR | METABOLISM | HOMOARGININE | ARGININE/GLYCINE AMIDINOTRANSFERASE | DISEASE | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | CREATINE DEFICIENCY | BRAIN | Glycine - analogs & derivatives | Developmental Disabilities - drug therapy | Speech Disorders - drug therapy | Amino Acid Metabolism, Inborn Errors - physiopathology | Glycine - urine | Humans | Child, Preschool | Amidinotransferases - genetics | Male | Developmental Disabilities - genetics | Intellectual Disability - genetics | Amino Acid Metabolism, Inborn Errors - diagnosis | Young Adult | Amino Acid Metabolism, Inborn Errors - genetics | Muscular Diseases - physiopathology | Muscular Diseases - drug therapy | Glycine - deficiency | Creatine - deficiency | Female | Amidinotransferases - chemistry | Child | Developmental Disabilities - diagnosis | Speech Disorders - diagnosis | Protein Structure, Tertiary | Developmental Disabilities - physiopathology | Glycine - blood | Amidinotransferases - deficiency | Gene Expression | Magnetic Resonance Spectroscopy | Protein Structure, Secondary | Speech Disorders - genetics | Models, Molecular | Treatment Outcome | Genes, Recessive | Sequence Analysis, DNA | Speech Disorders - physiopathology | Intellectual Disability - drug therapy | Intellectual Disability - physiopathology | Muscular Diseases - diagnosis | Intellectual Disability - diagnosis | Adolescent | Creatine - therapeutic use | Muscular Diseases - genetics | Mutation | Amino Acid Metabolism, Inborn Errors - drug therapy | Arginine | Glycine
Journal Article
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 Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 07/2013, Volume 109, Issue 3, pp. 260 - 268
Cerebral creatine deficiency syndromes (CCDS) are a group of inborn errors of creatine metabolism that involve and for creatine biosynthesis disorders and for... 
Creatine transporter defect | AGAT (Arginine:Glycine amidinotransferase) deficiency | GAMT (Guanidinoacetate Methyltransferase) deficiency | Cerebral creatine deficiency syndrome | GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY | MEDICINE, RESEARCH & EXPERIMENTAL | MENTAL-RETARDATION | TRANSPORTER GENE SLC6A8 | INBORN ERROR | ENZYME ASSAY | METABOLISM | AGAT DEFICIENCY | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | ARGININE | MUTATIONS | BRAIN | Humans | Movement Disorders - diagnosis | Amidinotransferases - genetics | Male | Intellectual Disability - metabolism | Amino Acid Metabolism, Inborn Errors - genetics | Membrane Transport Proteins - genetics | Amidinotransferases - blood | Amidinotransferases - chemistry | Brain Diseases, Metabolic, Inborn - genetics | Creatine - genetics | Models, Molecular | Plasma Membrane Neurotransmitter Transport Proteins - metabolism | Guanidinoacetate N-Methyltransferase - metabolism | Amidinotransferases - metabolism | Plasma Membrane Neurotransmitter Transport Proteins - genetics | Phenotype | Protein Conformation | Movement Disorders - genetics | Mutation | Developmental Disabilities - metabolism | Guanidinoacetate N-Methyltransferase - genetics | Developmental Disabilities - genetics | Language Development Disorders - metabolism | 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 | Language Development Disorders - diagnosis | Mental Retardation, X-Linked - diagnosis | Creatine - metabolism | Creatine - deficiency | Female | Developmental Disabilities - diagnosis | Guanidinoacetate N-Methyltransferase - blood | Speech Disorders - diagnosis | Plasma Membrane Neurotransmitter Transport Proteins - deficiency | Speech Disorders - metabolism | Amidinotransferases - deficiency | Brain Diseases, Metabolic, Inborn - metabolism | Language Development Disorders - genetics | Speech Disorders - genetics | Creatinine - urine | Syndrome | Movement Disorders - metabolism | Guanidinoacetate N-Methyltransferase - deficiency | Intellectual Disability - diagnosis | Movement Disorders - congenital | Mental Retardation, X-Linked - metabolism | Physiological aspects | Enzymes | Metabolites | Creatine
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 2014, Volume 37, Issue 5, pp. 715 - 733
Creatine transporter deficiency was discovered in 2001 as an X-linked cause of intellectual disability characterized by cerebral creatine deficiency. This... 
Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY | MEDICINE, RESEARCH & EXPERIMENTAL | MENTAL-RETARDATION | BLOOD-BRAIN-BARRIER | INBORN ERROR | SKELETAL-MUSCLE | GAMT DEFICIENCY | AGAT DEFICIENCY | PROTON NMR-SPECTROSCOPY | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | ARGININE-GLYCINE AMIDINOTRANSFERASE | MR SPECTROSCOPY | Brain Diseases, Metabolic, Inborn - complications | Plasma Membrane Neurotransmitter Transport Proteins - deficiency | Creatine - genetics | Mental Retardation, X-Linked - complications | Humans | Mental Retardation, X-Linked - physiopathology | Brain Diseases, Metabolic, Inborn - physiopathology | Plasma Membrane Neurotransmitter Transport Proteins - genetics | Intellectual Disability - genetics | Amino Acid Metabolism, Inborn Errors - diagnosis | Membrane Transport Proteins - deficiency | Mental Retardation, X-Linked - genetics | Animals | Amino Acid Metabolism, Inborn Errors - genetics | Membrane Transport Proteins - genetics | Creatine - deficiency | Genetic Diseases, X-Linked - genetics | Mice | Amino Acid Metabolism, Inborn Errors - pathology | Intellectual Disability - etiology | Brain Diseases, Metabolic, Inborn - genetics | Amino Acid Metabolism, Inborn Errors - drug therapy | Creatine
Journal Article