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https://www.readbyqxmd.com/read/27650626/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
#1
Iliyana Pacheva, Ivan Ivanov, Marin Penkov, Daliya Kancheva, Albena Jordanova, Mariya Ivanova
A case with GAMT deficiency (homozygous c.64dupG mutation) presented with neurodevelopmental delay, rare seizures, behavioral disturbances, and mild hypotonia, posing diagnostic challenges. Metabolic investigations showed low creatinine in plasma and urine (guanidinoacetate couldn't be investigated) and slightly elevated lactate. MRI was normal. Correct diagnosis was possible only after MR spectroscopy was performed at age 5½ years. A homozygous c.64dupG mutation of the GAMT gene was identified in the proband...
September 2016: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/27581622/creatine-supplementation-does-not-prevent-the-development-of-alcoholic-steatosis
#2
Murali Ganesan, Dan Feng, Ryan W Barton, Paul G Thomes, Benita L McVicker, Dean J Tuma, Natalia A Osna, Kusum K Kharbanda
BACKGROUND: Alcohol-induced reduction in the hepatocellular S-adenosylmethionine (SAM):S-adenosylhomocysteine (SAH) ratio impairs the activities of many SAM-dependent methyltransferases. These impairments ultimately lead to the generation of several hallmark features of alcoholic liver injury including steatosis. Guanidinoacetate methyltransferase (GAMT) is an important enzyme that catalyzes the final reaction in the creatine biosynthetic process. The liver is a major site for creatine synthesis which places a substantial methylation burden on this organ as GAMT-mediated reactions consume as much as 40% of all the SAM-derived methyl groups...
September 1, 2016: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/27233226/a-three-tier-algorithm-for-guanidinoacetate-methyltransferase-gamt-deficiency-newborn-screening
#3
Graham B Sinclair, Clara D M van Karnebeek, Manuel Ester, Frances Boyd, Tanya Nelson, Sylvia Stockler-Ipsiroglu, Hilary Vallance
BACKGROUND: Guanidinoacetate methyltransferase (GAMT) deficiency is a rare disorder of creatine biosynthesis presenting with epilepsy and developmental delay in infancy. Excellent developmental outcomes have been reported for infants treated from birth due to a family history. The BC Newborn Screening Program initiated a 3year pilot screening study for GAMT deficiency to evaluate the performance of a novel three-tiered screening approach. METHODS: Over 36months all bloodspots submitted for routine newborn screening were included in the pilot study (de-identified)...
July 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27001897/analysis-of-polymorphisms-of-genes-associated-with-folate-mediated-one-carbon-metabolism-and-neural-tube-defects-in-chinese-han-population
#4
Wei Piao, Jin Guo, Yihua Bao, Fang Wang, Ting Zhang, Junsheng Huo, Kunlin Zhang
BACKGROUND: The polymorphism of genes involved in folate-mediated one-carbon metabolism may be a risk factor for neural tube defects (NTDs). In the present study, we aimed to investigate the single nucleotide polymorphisms (SNPs) of the genes BHMT, CUBN, FTCD, GAMT, GART, SARDH, SHMT1, and MUT, and their effect on NTDs in the Chinese Han population. METHODS: A total of 270 NTDs cases and 192 controls were enrolled in this study. The SNPs were analyzed with the next-generation sequencing method...
April 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27001789/alterations-in-brain-creatine-concentrations-under-long-term-social-isolation-experimental-study
#5
N Koshoridze, Z Kuchukashvili, K Menabde, Sh Lekiashvili, M Koshoridze
Stress represents one of the main problems of modern humanity. This study was done for understanding more clearly alterations in creatine content of the brain under psycho-emotional stress induced by long-term social isolation. It was shown that under 30 days social isolation creatine amount in the brain was arisen, while decreasing concentrations of synthesizing enzymes (AGAT, GAMT) and creatine transporter protein (CrT). Another important point was that such changes were accompanied by down-regulation of creatine kinase (CK), therefore the enzyme's concentration was lowered...
February 2016: Georgian Medical News
https://www.readbyqxmd.com/read/26898547/systemic-availability-of-guanidinoacetate-affects-gabaa-receptor-function-and-seizure-threshold-in-gamt-deficient-mice
#6
A Schulze, C Tran, V Levandovskiy, V Patel, M A Cortez
Deficiency of guanidinoacetate methyltransferase (GAMT) causes creatine depletion and guanidinoacetate accumulation in brain with the latter deemed to be responsible for the severe seizure disorder seen in affected patients. We studied electrical brain activity and GABAA mediated mechanisms of B6J.Cg-Gamt(tm1Isb) mice. Electrocorticographic (ECoG) monitoring of pharmacological treatments with ornithine (5 % in drinking water for 5-18 days) and/or Picrotoxin (PTX) (a GABAA receptor antagonist) (1.5 mg/kg, I...
August 2016: Amino Acids
https://www.readbyqxmd.com/read/26861125/creatine-synthesis-and-exchanges-between-brain-cells-what-can-be-learned-from-human-creatine-deficiencies-and-various-experimental-models
#7
REVIEW
Layane Hanna-El-Daher, Olivier Braissant
While it has long been thought that most of cerebral creatine is of peripheral origin, the last 20 years has provided evidence that the creatine synthetic pathway (AGAT and GAMT enzymes) is expressed in the brain together with the creatine transporter (SLC6A8). It has also been shown that SLC6A8 is expressed by microcapillary endothelial cells at the blood-brain barrier, but is absent from surrounding astrocytes, raising the concept that the blood-brain barrier has a limited permeability for peripheral creatine...
August 2016: Amino Acids
https://www.readbyqxmd.com/read/26684475/prevalence-of-creatine-deficiency-syndromes-in-children-with-nonsyndromic-autism
#8
MULTICENTER STUDY
Andreas Schulze, Margaret Bauman, Anne Chun-Hui Tsai, Ann Reynolds, Wendy Roberts, Evdokia Anagnostou, Jessie Cameron, Alixandra A Nozzolillo, Shiyi Chen, Lianna Kyriakopoulou, Stephen W Scherer, Alvin Loh
BACKGROUND AND OBJECTIVE: Creatine deficiency may play a role in the neurobiology of autism and may represent a treatable cause of autism. The goal of the study was to ascertain the prevalence of creatine deficiency syndromes (CDSs) in children with autism spectrum disorder (ASD). METHODS: In a prospective multicenter study, 443 children were investigated after a confirmed diagnosis of ASD. Random spot urine screening for creatine metabolites (creatine, guanidinoacetate, creatinine, and arginine) with liquid chromatography-tandem mass spectrometry and second-tier testing with high-performance liquid chromatography methodology was followed by recall testing in 24-hour urines and confirmatory testing by Sanger-based DNA sequencing of GAMT, GATM, and SLC6A8 genes...
January 2016: Pediatrics
https://www.readbyqxmd.com/read/26639513/review-human-guanidinoacetate-n-methyl-transferase-gamt-deficiency-a-treatable-inborn-error-of-metabolism
#9
REVIEW
Furhan Iqbal
The creatine biosynthetic pathway is essential for cellular phosphate associated energy production and storage, particularly in tissues having higher metabolic demands. Guanidinoacetate N-Methyl transferase (GAMT) is an important enzyme in creatine endogenous biosynthetic pathway, with highest expression in liver and kidney. GAMT deficiency is an inherited autosomal recessive trait that was the first among creatine deficiency syndrome to be reported in 1994 having characteristic features of no comprehensible speech development, severe mental retardation, muscular hypotonia, involuntary movements and seizures that partly cannot be treated with anti-epileptic drugs...
November 2015: Pakistan Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/26542286/creatine-biosynthesis-and-transport-in-health-and-disease
#10
REVIEW
Marie Joncquel-Chevalier Curt, Pia-Manuela Voicu, Monique Fontaine, Anne-Frédérique Dessein, Nicole Porchet, Karine Mention-Mulliez, Dries Dobbelaere, Gustavo Soto-Ares, David Cheillan, Joseph Vamecq
Creatine is physiologically provided equally by diet and by endogenous synthesis from arginine and glycine with successive involvements of arginine glycine amidinotransferase [AGAT] and guanidinoacetate methyl transferase [GAMT]. A specific plasma membrane transporter, creatine transporter [CRTR] (SLC6A8), further enables cells to incorporate creatine and through uptake of its precursor, guanidinoacetate, also directly contributes to creatine biosynthesis. Breakthrough in the role of creatine has arisen from studies on creatine deficiency disorders...
December 2015: Biochimie
https://www.readbyqxmd.com/read/26319512/a-pilot-study-to-estimate-incidence-of-guanidinoacetate-methyltransferase-deficiency-in-newborns-by-direct-sequencing-of-the-gamt-gene
#11
RANDOMIZED CONTROLLED TRIAL
S Mercimek-Mahmutoglu, A Pop, W Kanhai, M Fernandez Ojeda, U Holwerda, D Smith, J G Loeber, P C J I Schielen, G S Salomons
BACKGROUND: GAMT deficiency is an autosomal recessive disorder of creatine biosynthesis causing developmental delays or intellectual disability in untreated patients as a result of irreversible brain damage occurring prior to diagnosis. Normal neurodevelopmental outcome has been reported in patients treated from neonatal period highlighting the importance of early treatment. METHODS: Five hundred anonymized newborns from the National Newborn Screening Program of The Netherlands were included into this pilot study...
January 1, 2016: Gene
https://www.readbyqxmd.com/read/26202197/creatine-and-the-liver-metabolism-and-possible-interactions
#12
REVIEW
R P Barcelos, S T Stefanello, J L Mauriz, J Gonzalez-Gallego, F A A Soares
The process of creatine synthesis occurs in two steps, catalyzed by L-arginine:glycine amidinotransferase (AGAT) and guanidinoacetate N-methyltransferase (GAMT), which take place mainly in kidney and liver, respectively. This molecule plays an important energy/pH buffer function in tissues, and to guarantee the maintenance of its total body pool, the lost creatine must be replaced from diet or de novo synthesis. Creatine administration is known to decrease the consumption of Sadenosyl methionine and also reduce the homocysteine production in liver, diminishing fat accumulation and resulting in beneficial effects in fatty liver and non-alcoholic liver disease...
2016: Mini Reviews in Medicinal Chemistry
https://www.readbyqxmd.com/read/26031828/biosynthesis-of-homoarginine-harg-and-asymmetric-dimethylarginine-adma-from-acutely-and-chronically-administered-free-l-arginine-in-humans
#13
RANDOMIZED CONTROLLED TRIAL
Arslan Arinc Kayacelebi, Jennifer Langen, Katharina Weigt-Usinger, Kristine Chobanyan-Jürgens, François Mariotti, Jessica Y Schneider, Sabine Rothmann, Jürgen C Frölich, Dorothee Atzler, Chi-Un Choe, Edzard Schwedhelm, Jean François Huneau, Thomas Lücke, Dimitrios Tsikas
Asymmetric dimethylarginine (ADMA) is an endogenous inhibitor of nitric oxide (NO) synthesis, whereas L-arginine (Arg) and L-homoarginine (hArg) serve as substrates for NO synthesis. ADMA and other methylated arginines are generally believed to exclusively derive from guanidine (N (G))-methylated arginine residues in proteins by protein arginine methyltransferases (PRMTs) that use S-adenosylmethionine (SAM) as the methyl donor. L-Lysine is known for decades as a precursor for hArg, but only recent studies indicate that arginine:glycine amidinotransferase (AGAT) is responsible for the synthesis of hArg...
September 2015: Amino Acids
https://www.readbyqxmd.com/read/26003046/carrier-frequency-of-guanidinoacetate-methyltransferase-deficiency-in-the-general-population-by-functional-characterization-of-missense-variants-in-the-gamt-gene
#14
Caro-Lyne Desroches, Jaina Patel, Peixiang Wang, Berge Minassian, Christian R Marshall, Gajja S Salomons, Saadet Mercimek-Mahmutoglu
Guanidinoacetate methyltransferase (GAMT) deficiency is a neurodegenerative disease. Although no symptomatic patients on treatment achieved normal neurodevelopment, three asymptomatic newborns were reported with normal neurodevelopmental outcome on neonatal treatment. GAMT deficiency is therefore a candidate for newborn screening programs, but there are no studies for the carrier frequency of this disease in the general population. To determine carrier frequency of GAMT deficiency, we studied the variants in the GAMT gene reported in the Exome Variant Server database and performed functional characterization of missense variants...
December 2015: Molecular Genetics and Genomics: MGG
https://www.readbyqxmd.com/read/25952022/expanded-newborn-screening-by-mass-spectrometry-new-tests-future-perspectives
#15
REVIEW
Daniela Ombrone, Elisa Giocaliere, Giulia Forni, Sabrina Malvagia, Giancarlo la Marca
Tandem mass spectrometry (MS/MS) has become a leading technology used in clinical chemistry and has shown to be particularly sensitive and specific when used in newborn screening (NBS) tests. The success of tandem mass spectrometry is due to important advances in hardware, software and clinical applications during the last 25 years. MS/MS permits a very rapid measurement of many metabolites in different biological specimens by using filter paper spots or directly on biological fluids. Its use in NBS give us the chance to identify possible treatable metabolic disorders even when asymptomatic and the benefits gained by this type of screening is now recognized worldwide...
January 2016: Mass Spectrometry Reviews
https://www.readbyqxmd.com/read/25926069/atorvastatin-increases-mir-124a-expression-a-mechanism-of-gamt-modulation-in-liver-cells
#16
Alisa Phulukdaree, Devapregasan Moodley, Sajidah Khan, Anil A Chuturgoon
Atorvastatin is used to control cholesterol and lipid levels in hyperlipidaemic and hypercholesterolaemic patients. Myopathy and hepatotoxicity, however, have been reported as side effects in a small percentage of statin users. This study aimed to investigate the cytotoxicity and the effect of atorvastatin on microRNA expression in HepG2 cells. The methylthiazol tetrazolium assay was used to assess hepatocyte viability and at 20 μM atorvastatin (24 h) treatment were 82 ± 1.5% viable (P = 0.0002)...
November 2015: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/25896543/mild-guanidinoacetate-increase-under-partial-guanidinoacetate-methyltransferase-deficiency-strongly-affects-brain-cell-development
#17
Layane Hanna-El-Daher, Elidie Béard, Hugues Henry, Liliane Tenenbaum, Olivier Braissant
Among cerebral creatine deficiency syndromes, guanidinoacetate methyltransferase (GAMT) deficiency can present the most severe symptoms, and is characterized by neurocognitive dysfunction due to creatine deficiency and accumulation of guanidinoacetate in the brain. So far, every patient was found with negligible GAMT activity. However, GAMT deficiency is thought under-diagnosed, in particular due to unforeseen mutations allowing sufficient residual activity avoiding creatine deficiency, but enough guanidinoacetate accumulation to be toxic...
July 2015: Neurobiology of Disease
https://www.readbyqxmd.com/read/25885219/maternal-creatine-homeostasis-is-altered-during-gestation-in-the-spiny-mouse-is-this-a-metabolic-adaptation-to-pregnancy
#18
Stacey J Ellery, Domenic A LaRosa, Michelle M Kett, Paul A Della Gatta, Rod J Snow, David W Walker, Hayley Dickinson
BACKGROUND: Pregnancy induces adaptations in maternal metabolism to meet the increased need for nutrients by the placenta and fetus. Creatine is an important intracellular metabolite obtained from the diet and also synthesised endogenously. Experimental evidence suggests that the fetus relies on a maternal supply of creatine for much of gestation. However, the impact of pregnancy on maternal creatine homeostasis is unclear. We hypothesise that alteration of maternal creatine homeostasis occurs during pregnancy to ensure adequate levels of this essential substrate are available for maternal tissues, the placenta and fetus...
2015: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/25279302/creatine-metabolism-differs-between-mammals-and-rainbow-trout-oncorhynchus-mykiss
#19
Andreas Borchel, Marieke Verleih, Alexander Rebl, Carsten Kühn, Tom Goldammer
Creatine plays an important role in the cell as an energy buffer. As the energy system is a basic element of the organism it may possibly contribute to differences between rainbow trout strains selected for the traits growth and robustness, respectively. The cDNA sequences of creatine-related genes encoding glycine amidinotransferase (GATM), guanidinoacetate N-methyltransferase (GAMT), creatine kinase muscle-type (CKM) and creatine transporter 1 (CT1, encoded by gene solute carrier family 6, member 8 (SLC6A8)) were characterized in rainbow trout...
2014: SpringerPlus
https://www.readbyqxmd.com/read/25272153/myocardial-creatine-levels-do-not-influence-response-to-acute-oxidative-stress-in-isolated-perfused-heart
#20
Dunja Aksentijević, Sevasti Zervou, Kiterie M E Faller, Debra J McAndrew, Jurgen E Schneider, Stefan Neubauer, Craig A Lygate
BACKGROUND: Multiple studies suggest creatine mediates anti-oxidant activity in addition to its established role in cellular energy metabolism. The functional significance for the heart has yet to be established, but antioxidant activity could contribute to the cardioprotective effect of creatine in ischaemia/reperfusion injury. OBJECTIVES: To determine whether intracellular creatine levels influence responses to acute reactive oxygen species (ROS) exposure in the intact beating heart...
2014: PloS One
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