keyword
MENU ▼
Read by QxMD icon Read
search

GAMT

keyword
https://www.readbyqxmd.com/read/28454702/creatine-biosynthesis-and-transport-by-the-term-human-placenta
#1
Stacey J Ellery, Paul A Della Gatta, Clinton R Bruce, Greg M Kowalski, Miranda Davies-Tuck, Joanne C Mockler, Padma Murthi, David W Walker, Rod J Snow, Hayley Dickinson
INTRODUCTION: Creatine is an amino acid derivative that is involved in preserving ATP homeostasis. Previous studies suggest an important role for the creatine kinase circuit for placental ATP turnover. Creatine is obtained from both the diet and endogenous synthesis, usually along the renal-hepatic axis. However, some tissues with a high-energy demand have an inherent capacity to synthesise creatine. In this study, we determined if the term human placenta has the enzymatic machinary to synthesise creatine...
April 2017: Placenta
https://www.readbyqxmd.com/read/28441831/-a-case-of-creatine-deficiency-syndromes-caused-by-gamt-gene-mutation
#2
L Yang, F Fang
No abstract text is available yet for this article.
April 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28438604/first-reported-chinese-case-of-guanidinoacetate-methyltransferase-deficiency-in-a-4-year-old-child
#3
Weihua Sun, Yi Wang, Zhen Zu, Yi Jiang, Wei Lu, Huijun Wang, Bingbing Wu, Ping Zhang, Xiaomin Peng, Hao Zhou
Guanidinoacetate methyltransferase (GAMT) deficiency is a rare inherited disorder characterized by creatine (Cr) depletion and guanidinoacetate (GAA) accumulation in body fluids. We report the first identified Chinese case, diagnosed in a 4-year-old girl with onset of global developmental. Low Cr and high GAA levels were detected in her serum and urine, and low Cr level in her brain. Compound heterozygous variants in GAMT gene were found, including a previously reported variant at c.491dupG which was inherited from her mother and a novel variant at c...
July 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28220408/guanidinoacetate-methyltransferase-activity-in-lymphocytes-for-a-fast-diagnosis
#4
Lisette M Berends, Eduard A Struys, Birthe Roos, Ulbe Holwerda, Erwin E W Jansen, Gajja S Salomons, Mirjam M C Wamelink
INTRODUCTION: Guanidinoacetate methyltransferase (GAMT) deficiency is an inborn error of metabolism (IEM), clinically characterized by intellectual disability, developmental delay, seizures, and movement disorders. Biochemical diagnosis of GAMT deficiency is based on the measurement of creatine and guanidinoacetate in urine, plasma, or CSF and is confirmed genetically by DNA analysis or by enzyme assay in lymphoblasts or fibroblasts. To obtain enough cells, these cells need to be cultured for at least 1 month...
February 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28147250/an-mr-compatible-gyroscope-based-arm-movement-tracking-system
#5
S Iman Shirinbayan, Jochem W Rieger
BACKGROUND: Functional magnetic resonance imaging is well suited to link neural population activation with movement parameters of complex natural arm movements. However, currently existing MR-compatible arm tracking devices are not constructed to measure arm joint movement parameters of unrestricted movements. Therefore, to date most research focuses on simple arm movements or includes very little knowledge about the actual movement kinematics. NEW METHOD: We developed a low cost gyroscope-based arm movement tracking system (GAMTS) that features MR-compatibility...
January 29, 2017: Journal of Neuroscience Methods
https://www.readbyqxmd.com/read/28119378/guanidinoacetate-methyltransferase-gamt-deficiency-a-rare-but-treatable-epilepsy
#6
William M Stern, Joel S Winston, Elaine Murphy, J Helen Cross, Josemir W Sander
Epilepsy commonly presents in childhood as part of a syndrome, and some such children may reach adult services without an underlying syndromic diagnosis. For adult neurologists taking over their care, it is often unclear how hard to search for an underlying diagnosis. The diagnostic yield may be small and such a diagnosis may not change management. Young adults with learning difficulties are also challenging to investigate, as they may not tolerate standard epilepsy tests.We present such a case in which simple tests identified a unifying diagnosis...
June 2017: Practical Neurology
https://www.readbyqxmd.com/read/28069926/creatine-enhances-mitochondrial-mediated-oligodendrocyte-survival-after-demyelinating-injury
#7
Kelly A Chamberlain, Kristen S Chapey, Sonia E Nanescu, Jeffrey K Huang
Chronic oligodendrocyte loss, which occurs in the demyelinating disorder multiple sclerosis (MS), contributes to axonal dysfunction and neurodegeneration. Current therapies are able to reduce MS severity, but do not prevent transition into the progressive phase of the disease, which is characterized by chronic neurodegeneration. Therefore, pharmacological compounds that promote oligodendrocyte survival could be beneficial for neuroprotection in MS. Here, we investigated the role of creatine, an organic acid involved in adenosine triphosphate (ATP) buffering, in oligodendrocyte function...
February 8, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
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
#8
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
#9
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...
November 2016: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/27233226/a-three-tier-algorithm-for-guanidinoacetate-methyltransferase-gamt-deficiency-newborn-screening
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
keyword
keyword
13906
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"