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Creatine deficiency

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https://www.readbyqxmd.com/read/28971744/benefits-and-drawbacks-of-guanidinoacetic-acid-as-a-possible-treatment-to-replenish-cerebral-creatine-in-agat-deficiency
#1
Sergej M Ostojic
Arginine-glycine amidinotransferase (AGAT) deficiency is a rare inherited metabolic disorder that severely affects brain bioenergetics. Characterized by mental retardation, language impairment, and behavioral disorders, AGAT deficiency is a treatable condition, where long-term creatine supplementation usually restores brain creatine levels and improves its clinical features. In some cases of AGAT deficiency, creatine treatment might be somewhat limited due to possible shortcomings in performance and transport of creatine to the brain...
October 3, 2017: Nutritional Neuroscience
https://www.readbyqxmd.com/read/28961344/investigation-of-the-contribution-of-total-creatine-to-the-cest-z-spectrum-of-brain-using-a-knockout-mouse-model
#2
Lin Chen, Haifeng Zeng, Xiang Xu, Nirbhay N Yadav, Shuhui Cai, Nicolaas A Puts, Peter B Barker, Tong Li, Robert G Weiss, Peter C M van Zijl, Jiadi Xu
The current study aims to assign and estimate the total creatine (tCr) signal contribution to the Z-spectrum in mouse brain at 11.7 T. Creatine (Cr), phosphocreatine (PCr) and protein phantoms were used to confirm the presence of a guanidinium resonance at this field strength. Wild-type (WT) and knockout mice with guanidinoacetate N-methyltransferase deficiency (GAMT-/-), which have low Cr and PCr concentrations in the brain, were used to assign the tCr contribution to the Z-spectrum. To estimate the total guanidinium concentrations, two pools for the Z-spectrum around 2 ppm were assumed: (i) a Lorentzian function representing the guanidinium chemical exchange saturation transfer (CEST) at 1...
September 29, 2017: NMR in Biomedicine
https://www.readbyqxmd.com/read/28916380/roles-of-amino-acid-residues-h66-and-d326-in-the-creatine-kinase-activity-and-structural-stability
#3
Qing-Yun Wu, Fang Wei, Yuan-Yuan Zhu, Yu-Xue Tong, Jiang Cao, Ping Zhou, Zhen-Yu Li, Ling-Yu Zeng, Feng Li, Xiao-Yun Wang, Kai-Lin Xu
Creatine kinase (CK) is a key enzyme for cellular energy metabolism, catalyzing the reversible phosphoryl transfer from phosphocreatine to ADP in vertebrates. CK contains a pair of highly conserved amino acids (H66 and D326) which might play an important role in sustaining the compact structure of CK by linking its N- and C- terminal domains; however the mechanism is still unclear. In this study, spectroscopic, structural modeling and protein folding experiments suggested that D326A, H66P and H66P/D326A mutations led to disruption of the hydrogen bond between those two amino acid residues and form the partially unfolded state which made it easier to be inactivated and unfolded under environmental stresses, and more prone to form insoluble aggregates...
September 12, 2017: International Journal of Biological Macromolecules
https://www.readbyqxmd.com/read/28914566/a-novel-etfdh-mutation-in-an-adult-patient-with-late-onset-riboflavin-responsive-multiple-acyl-coa-dehydrogenase-deficiency
#4
Min Chen, Jing Peng, Wei Wei, Wang, Hongliang Xu, Hongbo Liu
We report a novel mutation in the electron transfer flavoprotein dehydrogenase (ETFDH) gene in an adult patient with late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD) characterized by muscle weakness and hypoglycemia as main clinical presentation. At the age of 34 years, the patient experienced progressive muscle weakness and short of breath. Blood creatine kinase level was significantly higher than normal. The blood glucose was significantly lower than normal. The muscle biopsy revealed lipid storage myopathy...
September 15, 2017: International Journal of Neuroscience
https://www.readbyqxmd.com/read/28901216/creatine-or-vitamin-d-supplementation-in-individuals-with-a-spinal-cord-injury-undergoing-resistance-training-a-double-blinded-randomized-pilot-trial
#5
Samuel Amorim, Vitor Hugo Teixeira, Rui Corredeira, Maria Cunha, Bruno Maia, Paulo Margalho, Joana Pires
Purpose Determine whether creatine or vitamin D supplementation improves muscle strength in individuals with spinal cord injury undergoing resistance training. Methods Thirteen male and one female with spinal cord injury, from two Portuguese rehabilitation centers, were randomized to creatine (3g daily), vitamin D (25000 IU each two weeks) or placebo group in a double-blind design. All participants performed progressive resistance training during eight weeks. The outcome measures, obtained at baseline and after intervention, included: Sum of four skinfolds; Corrected arm muscle area; Seated medicine ball throw; Handgrip strength with dynamometer; Manual wheelchair slalom test and one repetition maximum for Chest press, Triceps, Pec deck and Lat pulldown...
September 13, 2017: Journal of Spinal Cord Medicine
https://www.readbyqxmd.com/read/28899419/increased-plasma-lipid-levels-exacerbate-muscle-pathology-in-the-mdx-mouse-model-of-duchenne-muscular-dystrophy
#6
Nadia Milad, Zoe White, Arash Y Tehrani, Stephanie Sellers, Fabio M V Rossi, Pascal Bernatchez
BACKGROUND: Duchenne muscular dystrophy (DMD) is caused by loss of dystrophin expression and leads to severe ambulatory and cardiac function decline. However, the dystrophin-deficient mdx murine model of DMD only develops a very mild form of the disease. Our group and others have shown vascular abnormalities in animal models of MD, a likely consequence of the fact that blood vessels express the same dystrophin-associated glycoprotein complex (DGC) proteins as skeletal muscles. METHODS: To test the blood vessel contribution to muscle damage in DMD, mdx (4cv) mice were given elevated lipid levels via apolipoprotein E (ApoE) gene knockout combined with normal chow or lipid-rich Western diets...
September 12, 2017: Skeletal Muscle
https://www.readbyqxmd.com/read/28812460/myopathic-mtdna-depletion-syndrome-due-to-mutation-in-tk2-gene
#7
Elena Martín-Hernández, María Teresa García-Silva, Pilar Quijada-Fraile, María Elena Rodríguez-García, Henry Rivera, Aurelio Hernández-Laín, David Coca-Robinot, Joaquín Fernández-Toral, Joaquín Arenas, Miguel A Martín, Francisco Martínez-Azorín
Whole-exome sequencing was used to identify the disease gene(s) in a Spanish girl with failure to thrive, muscle weakness, mild facial weakness, elevated creatine kinase, deficiency of mitochondrial complex III and depletion of mtDNA. With whole-exome sequencing data, it was possible to get the whole mtDNA sequencing and discard any pathogenic variant in this genome. The analysis of whole exome uncovered a homozygous pathogenic mutation in thymidine kinase 2 gene ( TK2; NM_004614.4:c.323 C>T, p.T108M)...
September 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28810230/a-novel-hydrophilic-interaction-liquid-chromatography-method-for-the-determination-of-underivatized-amino-acids-in-alimentary-supplements
#8
Thomas Themelis, Roberto Gotti, Rita Gatti
Amino acids playing important roles in metabolic processes are often included in dietary supplements whose use has largely expanded over the last 20 years not only in patients with particular deficiencies, but also in athletes and even common people that want to enrich their regular daily diet. In the present study, a bare silica Kinetex core-shell 2.6μm HILIC column was used for separation of some important hydrophilic amino acids and amino acids-like molecules i.e., aspartic acid, creatine, carnitine, arginine and the tripeptide glutathione (GSH), by optimizing the chromatographic conditions for their determination in complex alimentary supplements...
October 25, 2017: Journal of Pharmaceutical and Biomedical Analysis
https://www.readbyqxmd.com/read/28808834/biochemical-and-behavioral-phenotype-of-agat-and-gamt-deficient-mice-following-long-term-creatine-monohydrate-supplementation
#9
Furhan Iqbal, Herald Hoeger, Gurt Lubec, Olaf Bodamer
The creatine/phosphocreatine system is essential for cellular phosphate coupled energy storage and production. We investigated the utility of creatine monohydrate supplementation in two different creatine deficient knockout mouse models. Following weaning, female Arginine: Glycine Amidinotransferase (AGAT) and Guanidinoacetate: methyltransferase (GAMT) knockouts and wild type mice were studied based on their genotypes and dietary supplementation (creatine free or 2% creatine monohydrate supplemented diet) for 10 weeks, using a series of behavioral tests and biochemical analyzes...
August 14, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28807458/caveolin-3-deficiency-myopathy-associated-with-dyslipidemia-treatment-challenges-and-possible-pathophysiological-association
#10
Daiana Ibarretxe, Joan Pellejà, Nicolau Ortiz, Luis Masana
We report the case of a patient treated at the lipid clinic because of high cholesterol levels with consistently elevated creatine kinase concentrations that precluded statin treatment. Electromyography showed a rippling muscle disease pattern. A muscle biopsy confirmed caveolin 3 deficiency, and a missense mutation in the CAV3 gene was identified. The patient could be properly managed with ezetimibe and cholestyramine, which reduced the low-density lipoprotein cholesterol by 30%. He remains asymptomatic after 10 years of follow-up...
September 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28804634/muscle-mri-findings-in-a-one-year-old-girl-with-merosin-deficient-congenital-muscular-dystrophy-type-1a-due-to-lama2-mutation-a-case-report
#11
Yingyin Liang, Guidian Li, Songlin Chen, Rongxing He, Xiangxue Zhou, Yingming Chen, Xue Xu, Ronglan Zhu, Cheng Zhang
The objective of the present study was to characterize the muscle magnetic resonance imaging (MRI) features of a 1-year-old girl with merosin-deficient congenital muscular dystrophy type 1A (MDC1A). Beginning as an infant, this patient exhibited severe hypotonia and proximal weakness, as well as delays in developmental milestones. Her serum creatine kinase levels at 3 months, 8 months and 1 year were 2,959, 1,621 and 1,659 U/l, respectively. Brain MRI indicated symmetric, mild T1WI low, mild T2WI and FLAIR high radial patterns in the white matter of the Cornu posterius of the ventricular lateral...
August 2017: Biomedical Reports
https://www.readbyqxmd.com/read/28802038/trem2-maintains-microglial-metabolic-fitness-in-alzheimer-s-disease
#12
Tyler K Ulland, Wilbur M Song, Stanley Ching-Cheng Huang, Jason D Ulrich, Alexey Sergushichev, Wandy L Beatty, Alexander A Loboda, Yingyue Zhou, Nigel J Cairns, Amal Kambal, Ekaterina Loginicheva, Susan Gilfillan, Marina Cella, Herbert W Virgin, Emil R Unanue, Yaming Wang, Maxim N Artyomov, David M Holtzman, Marco Colonna
Elevated risk of developing Alzheimer's disease (AD) is associated with hypomorphic variants of TREM2, a surface receptor required for microglial responses to neurodegeneration, including proliferation, survival, clustering, and phagocytosis. How TREM2 promotes such diverse responses is unknown. Here, we find that microglia in AD patients carrying TREM2 risk variants and TREM2-deficient mice with AD-like pathology have abundant autophagic vesicles, as do TREM2-deficient macrophages under growth-factor limitation or endoplasmic reticulum (ER) stress...
August 10, 2017: Cell
https://www.readbyqxmd.com/read/28792616/proteomic-profiling-of-liver-and-plasma-in-chronic-ethanol-feeding-model-of-hepatic-alcohol-dehydrogenase-deficient-deer-mice
#13
Kamlesh K Bhopale, Samir M Amer, Lata Kaphalia, Kizhake V Soman, John E Wiktorowicz, Ghulam A Shakeel Ansari, Bhupendra S Kaphalia
BACKGROUND: Chronic alcohol abuse, a major risk factor for such diseases as hepatitis and cirrhosis, impairs hepatic alcohol dehydrogenase (ADH; key ethanol [EtOH]-metabolizing enzyme). Therefore, differentially altered hepatic and plasma proteomes were identified in chronic EtOH feeding model of hepatic ADH-deficient (ADH(-) ) deer mice to understand the metabolic basis of alcoholic liver disease (ALD). METHODS: ADH(-) deer mice were fed 3.5 g% EtOH via Lieber-DeCarli liquid diet daily for 3 months and histology of the liver assessed...
October 2017: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/28781773/the-relationship-between-dietary-methionine-and-growth-digestion-absorption-and-antioxidant-status-in-intestinal-and-hepatopancreatic-tissues-of-sub-adult-grass-carp-ctenopharyngodon-idella
#14
Pei Wu, Ling Tang, Weidan Jiang, Kai Hu, Yang Liu, Jun Jiang, Shengyao Kuang, Ling Tang, Wuneng Tang, Yongan Zhang, Xiaoqiu Zhou, Lin Feng
BACKGROUND: Methionine is an essential amino acid for fish. The present study was conducted to investigate the effects of dietary methionine on growth performance, digestive and absorptive ability, as well as antioxidant capacity in the intestine and hepatopancreas of sub-adult grass carp (Ctenopharyngodon idella). RESULTS: Dietary methionine deficiency significantly decreased percentage weight gain (PWG), feed intake, feed efficiency and protein efficiency ratio, as well as activities of hepatopancreatic glutamate-oxaloacetate transaminase and muscle glutamate-pyruvate transaminase in sub-adult grass carp (P < 0...
2017: Journal of Animal Science and Biotechnology
https://www.readbyqxmd.com/read/28774370/-recurrent-anorexia-and-pigmentation-of-skin-for-more-than-two-months-in-an-infant
#15
Zhang-Qian Zheng, Bing-Bing Wu, Miao-Ying Zhang, Wei Lu, Fei-Hong Luo
A 2-month-old boy presented with adrenal insufficiency, impaired liver function, hypertriglyceridemia, significantly elevated creatine kinase and electrolyte disturbance. Microarray comparative genomic hybridization (aCGH) analysis test showed a pathogenic 8.7 Mb deletion in the short arm of chromosome X (Xp21.3 - p21.1) and confirmed the diagnosis of complex glycerol kinase deficiency (cGKD). He was treated with hydrocortisone, coenzyme Q10 and L-carnitine and was subsequently followed up for 4 years. His serum cortisol levels returned to normal one week later after treatment, but the serum creatine kinase, triglyceride and aminotransferase levels were progressively increased along with mental retardation and decreased muscular strength...
August 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28759390/cholestasis-and-hepatic-iron-deposition-in-an-infant-with-complex-glycerol-kinase-deficiency
#16
Diana Montoya-Williams, Meredith Mowitz
We present a 6-week-old male infant with persistent hyperbilirubinemia, hypertriglyceridemia, elevated creatine kinase levels, and transaminitis since the second week of life. When he developed hyperkalemia, clinical suspicion was raised for adrenal insufficiency despite hemodynamic stability. A full endocrine workup revealed nearly absent adrenocorticotropic hormone. Coupled with his persistent hypertriglyceridemia (peak of 811 mg/dL) and elevated creatine kinase levels (>20 000 U/L), his corticotropin level lead to a clinical diagnosis of complex glycerol kinase deficiency (GKD), also known as Xp21 deletion syndrome...
July 2017: Pediatrics
https://www.readbyqxmd.com/read/28758966/variability-of-creatine-metabolism-genes-in-children-with-autism-spectrum-disorder
#17
Jessie M Cameron, Valeriy Levandovskiy, Wendy Roberts, Evdokia Anagnostou, Stephen Scherer, Alvin Loh, Andreas Schulze
Creatine deficiency syndrome (CDS) comprises three separate enzyme deficiencies with overlapping clinical presentations: arginine:glycine amidinotransferase (GATM gene, glycine amidinotransferase), guanidinoacetate methyltransferase (GAMT gene), and creatine transporter deficiency (SLC6A8 gene, solute carrier family 6 member 8). CDS presents with developmental delays/regression, intellectual disability, speech and language impairment, autistic behaviour, epileptic seizures, treatment-refractory epilepsy, and extrapyramidal movement disorders; symptoms that are also evident in children with autism...
July 31, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28751290/myoadenylate-deaminase-deficiency-a-frequent-cause-of-muscle-pain-a-case-detected-by-exercise-testing
#18
Lydie Lim, Maeva Palayer, Antoine Bruneau, Franck Letournel, Cédric Le Maréchal, Gilles Simard, Pascal Reynier, Chadi Homedan, Aleksandra Nadaj-Pakleza
Myoadenylate deaminase deficit (MAD, MIM#615511) is the most common cause of metabolic myopathies with an estimated prevalence of 1-2% in the general population. We report the case of a 39-year-old man suffering from severe skeletal muscle pain that had developed gradually for 4 years. A moderate increase in creatine kinase (CK) was the only biological sign observed. This study takes a closer look at a common but poorly known pathology and highlights the interest of the dynamic metabolic investigations carried out during exercise stress test with a cycle ergometer...
August 1, 2017: Annales de Biologie Clinique
https://www.readbyqxmd.com/read/28658866/unusual-presentation-of-atypical-infantile-pompe-disease-in-the-newborn-period-with-left-ventricular-hypertrophy
#19
Sanjay Kumar, Amit Kumar
Pompe disease, also known as glycogen storage disease Type II, is a lysosomal storage disorder caused by α-glucosidase deficiency. In general, the clinical spectrum varies with respect to the age of onset, residual enzyme activity and organ involvement. Infantile onset disease has two subtypes: classical and non-classical (atypical). This case report describes the case of a newborn who presented with generalized hypotonia and elevated serum enzyme levels of aspartate aminotransferase 93 IU/L, lactate dehydrogenase 888 IU/L and creatine kinase 670 μg/L...
May 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28612295/neuroprotective-effect-of-creatine-and-pyruvate-on-enzyme-activities-of-phosphoryl-transfer-network-and-oxidative-stress-alterations-caused-by-leucine-administration-in-wistar-rats
#20
Elenara Rieger, Itiane Diehl de Franceschi, Thales Preissler, Clovis Milton Duval Wannmacher
Maple syrup urine disease is an autosomal metabolic disease caused by a deficiency of branched-chain α-keto acid dehydrogenase complex activity. In this disease occur the accumulation of the branched-chain amino acids leucine, isoleucine, and valine and their corresponding branched-chain α-keto acids in the tissues and body fluids. The affected patients may present psychomotor development delay and mental retardation. The pathophysiology of maple syrup urine disease is not entirely understood, but leucine seems to be the primary neurotoxic metabolite...
June 13, 2017: Neurotoxicity Research
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