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Creatine transporter deficiency

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https://www.readbyqxmd.com/read/27701498/creatine-metabolism-detection-of-creatine-and-guanidinoacetate-in-saliva-of-healthy-subjects
#1
Lidia D Martínez, Miriam Bezard, Mabel Brunotto, Raquel Dodelson de Kremer
Creatine (Cr) plays an important role in storage and transmission of phosphate-bound energy. Cerebral creatine deficiency syndromes comprise three inherited defects in Cr biosynthesis and transport. The aim of this study was to investigate whether Cr and Guanidinoacetate (GAA) can be detected in saliva of healthy subjects and to establish the relationship between salivary and plasma levels of these molecules. An adapted gas chromatography (GC) method is described for the quantification of Cr and GAA biomarkers in saliva...
April 2016: Acta Odontológica Latinoamericana: AOL
https://www.readbyqxmd.com/read/27466184/a-mouse-model-for-creatine-transporter-deficiency-reveals-early-onset-cognitive-impairment-and-neuropathology-associated-with-brain-aging
#2
Laura Baroncelli, Angelo Molinaro, Francesco Cacciante, Maria Grazia Alessandrì, Debora Napoli, Elena Putignano, Jonida Tola, Vincenzo Leuzzi, Giovanni Cioni, Tommaso Pizzorusso
Mutations in the creatine (Cr) transporter (CrT) gene lead to cerebral creatine deficiency syndrome-1 (CCDS1), an X-linked metabolic disorder characterized by cerebral Cr deficiency causing intellectual disability, seizures, movement and autistic-like behavioral disturbances, language and speech impairment. Since no data are available about the neural and molecular underpinnings of this disease, we performed a longitudinal analysis of behavioral and pathological alterations associated with CrT deficiency in a CCDS1 mouse model...
July 27, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27448163/metabolomic-profiling-of-human-urine-as-a-screen-for-multiple-inborn-errors-of-metabolism
#3
Adam D Kennedy, Marcus J Miller, Kirk Beebe, Jacob E Wulff, Anne M Evans, Luke A D Miller, V Reid Sutton, Qin Sun, Sarah H Elsea
AIMS: We wished to determine the efficacy of using urine as an analyte to screen for a broad range of metabolic products associated with multiple different types of inborn errors of metabolism (IEMs), using an automated mass spectrometry-based assay. Urine was compared with plasma samples from a similar cohort analyzed using the same assay. Specimens were analyzed using two different commonly utilized urine normalization methods based on creatinine and osmolality, respectively. METHODS: Biochemical profiles for each sample (from both affected and unaffected subjects) were obtained using a mass spectrometry-based platform and population-based statistical analyses...
September 2016: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/27408820/creatine-transporter-deficiency-novel-mutations-and-functional-studies
#4
O Ardon, M Procter, R Mao, N Longo, Y E Landau, A Shilon-Hadass, L V Gabis, C Hoffmann, M Tzadok, G Heimer, S Sada, B Ben-Zeev, Y Anikster
X-linked cerebral creatine deficiency (MIM 300036) is caused by deficiency of the creatine transporter encoded by the SLC6A8 gene. Here we report three patients with this condition from Israel. These unrelated patients were evaluated for global developmental delays and language apraxia. Borderline microcephaly was noted in one of them. Diagnosis was prompted by brain magnetic resonance imaging and spectroscopy which revealed normal white matter distribution, but absence of the creatine peak in all three patients...
September 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27401086/creatine-transporter-deficiency-leads-to-increased-whole-body-and-cellular-metabolism
#5
Marla K Perna, Amanda N Kokenge, Keila N Miles, Kenea C Udobi, Joseph F Clark, Gail J Pyne-Geithman, Zaza Khuchua, Matthew R Skelton
Creatine (Cr) is a guanidino compound required for rapid replenishment of ATP in cells with a high-energy demand. In humans, mutations in the Cr transporter (CRT;SLC6A8) prevent Cr entry into tissue and result in a significant intellectual impairment, epilepsy, and aphasia. The lack of Cr on both the whole body and cellular metabolism was evaluated in Crt knockout (Crt (-/y) ) mice, a high-fidelity model of human CRT deficiency. Crt (-/y) mice have reduced body mass and, however, show a twofold increase in body fat...
August 2016: Amino Acids
https://www.readbyqxmd.com/read/27096572/creatine-transporter-deficiency-screening-of-males-with-neurodevelopmental-disorders-and-neurocognitive-characterization-of-a-case
#6
Audrey Thurm, Daniel Himelstein, Precilla DʼSouza, Owen Rennert, Susanqi Jiang, Damilola Olatunji, Nicola Longo, Marzia Pasquali, Susan Swedo, Gajja S Salomons, Nuria Carrillo
OBJECTIVE: Creatine transporter deficiency (CTD) is an X-linked, neurometabolic disorder associated with intellectual disability that is characterized by brain creatine (Cr) deficiency and caused by mutations in SLC6A8, the Cr transporter 1 protein gene. CTD is identified by elevated urine creatine/creatinine (Cr/Crn) ratio or reduced Cr peak on brain magnetic resonance spectroscopy; the diagnosis is confirmed by decreased Cr uptake in cultured fibroblasts, and/or identification of a mutation in the SLC6A8 gene...
May 2016: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/26930002/creatine-salts-provide-neuroprotection-even-after-partial-impairment-of-the-creatine-transporter
#7
E Adriano, P Garbati, A Salis, G Damonte, E Millo, M Balestrino
Creatine, a compound that is critical for energy metabolism of nervous cells, crosses the blood-brain barrier (BBB) and the neuronal plasma membrane with difficulty, and only using its specific transporter. In the hereditary condition where the creatine transporter is defective (creatine transporter deficiency) there is no creatine in the brain, and administration of creatine is useless lacking the transporter. The disease is severe and incurable. Creatine-derived molecules that could cross BBB and plasma membrane independently of the transporter might be useful to cure this condition...
February 27, 2016: Neuroscience
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
#8
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/26542286/creatine-biosynthesis-and-transport-in-health-and-disease
#9
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/26205312/treatment-of-creatine-transporter-slc6a8-deficiency-with-oral-s-adenosyl-methionine-as-adjunct-to-l-arginine-glycine-and-creatine-supplements
#10
Sravan Jaggumantri, Mary Dunbar, Vanessa Edgar, Cristina Mignone, Theresa Newlove, Rajavel Elango, Jean Paul Collet, Michael Sargent, Sylvia Stockler-Ipsiroglu, Clara D M van Karnebeek
BACKGROUND: Creatine transporter (SLC6A8) deficiency is an X-linked inborn error of metabolism characterized by cerebral creatine deficiency, behavioral problems, seizures, hypotonia, and intellectual developmental disability. A third of patients are amenable to treatment with high-dose oral creatine, glycine, and L-arginine supplementation. METHODS: Given the limited treatment response, we initiated an open-label observational study to evaluate the effect of adjunct S-adenosyl methionine to further enhance intracerebral creatine synthesis...
October 2015: Pediatric Neurology
https://www.readbyqxmd.com/read/25861866/estimated-carrier-frequency-of-creatine-transporter-deficiency-in-females-in-the-general-population-using-functional-characterization-of-novel-missense-variants-in-the-slc6a8-gene
#11
Caro-Lyne DesRoches, Jaina Patel, Peixiang Wang, Berge Minassian, Gajja S Salomons, Christian R Marshall, Saadet Mercimek-Mahmutoglu
Creatine transporter deficiency (CRTR-D) is an X-linked inherited disorder of creatine transport. All males and about 50% of females have intellectual disability or cognitive dysfunction. Creatine deficiency on brain proton magnetic resonance spectroscopy and elevated urinary creatine to creatinine ratio are important biomarkers. Mutations in the SLC6A8 gene occur de novo in 30% of males. Despite reports of high prevalence of CRTR-D in males with intellectual disability, there are no true prevalence studies in the general population...
July 10, 2015: Gene
https://www.readbyqxmd.com/read/25803912/-a-family-with-creatine-transporter-deficiency-diagnosed-with-urinary-creatine-creatinine-ratio-and-the-family-history-the-third-japanese-familial-case
#12
Fumihito Nozaki, Tomohiro Kumada, Minoru Shibata, Tatsuya Fujii, Takahito Wada, Hitoshi Osaka
Creatine transporter deficiency (CRTR-D) is an X-linked disorder characterized by hypotonia, developmental delay, and seizures. We report the third Japanese family with CRTR-D. The proband was an 8-year-old boy who presented with hypotonia, severe intellectual disability and two episodes of seizures associated with/without fever. Among 7 siblings (4 males, 3 females), the eldest brother had severe intellectual disability, epilepsy, and sudden death at 17 years of age, while 18-year-old third elder brother had severe intellectual disability, autism, and drug-resistant epilepsy...
January 2015: No to Hattatsu. Brain and Development
https://www.readbyqxmd.com/read/25531216/upregulation-of-the-creatine-transporter-slc6a8-by-klotho
#13
Ahmad Almilaji, Mentor Sopjani, Bernat Elvira, José Borras, Miribane Dërmaku-Sopjani, Carlos Munoz, Jamshed Warsi, Undine E Lang, Florian Lang
BACKGROUND/AIMS: The transmembrane Klotho protein contributes to inhibition of 1,25(OH)2D3 formation. The extracellular domain of Klotho protein could function as an enzyme with e.g. β-glucuronidase activity, be cleaved off and be released into blood and cerebrospinal fluid. Klotho regulates several cellular transporters. Klotho protein deficiency accelerates the appearance of age related disorders including neurodegeneration and muscle wasting and eventually leads to premature death...
2014: Kidney & Blood Pressure Research
https://www.readbyqxmd.com/read/25521922/diagnostic-methods-and-recommendations-for-the-cerebral-creatine-deficiency-syndromes
#14
REVIEW
Joseph F Clark, Kim M Cecil
Primary care pediatricians and a variety of specialist physicians strive to define an accurate diagnosis for children presenting with impairment of expressive speech and delay in achieving developmental milestones. Within the past two decades, a group of disorders featuring this presentation have been identified as cerebral creatine deficiency syndromes (CCDS). Patients with these disorders were initially discerned using proton magnetic resonance spectroscopy of the brain within a magnetic resonance imaging (MRI) examination...
March 2015: Pediatric Research
https://www.readbyqxmd.com/read/25485098/a-novel-mouse-model-of-creatine-transporter-deficiency
#15
Laura Baroncelli, Maria Grazia Alessandrì, Jonida Tola, Elena Putignano, Martina Migliore, Elena Amendola, Cornelius Gross, Vincenzo Leuzzi, Giovanni Cioni, Tommaso Pizzorusso
Mutations in the creatine (Cr) transporter (CrT) gene lead to cerebral creatine deficiency syndrome-1 (CCDS1), an X-linked metabolic disorder characterized by cerebral Cr deficiency causing intellectual disability, seizures, movement  and behavioral disturbances, language and speech impairment ( OMIM #300352). CCDS1 is still an untreatable pathology that can be very invalidating for patients and caregivers. Only two murine models of CCDS1, one of which is an ubiquitous knockout mouse, are currently available to study the possible mechanisms underlying the pathologic phenotype of CCDS1 and to develop therapeutic strategies...
2014: F1000Research
https://www.readbyqxmd.com/read/25272153/myocardial-creatine-levels-do-not-influence-response-to-acute-oxidative-stress-in-isolated-perfused-heart
#16
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
https://www.readbyqxmd.com/read/25253560/creatine-supplementation-reduces-doxorubicin-induced-cardiomyocellular-injury
#17
Lucia Santacruz, Marcus D Darrabie, Jose Gabriel Mantilla, Rajashree Mishra, Bryan J Feger, Danny O Jacobs
Heart failure is a common complication of doxorubicin (DOX) therapy. Previous studies have shown that DOX adversely impacts cardiac energy metabolism, and the ensuing energy deficiencies antedate clinical manifestations of cardiac toxicity. Brief exposure of cultured cardiomyocytes to DOX significantly decreases creatine transport, which is the cell's sole source of creatine. We present the results of a study performed to determine if physiological creatine supplementation (5 mmol/L) could protect cardiomyocytes in culture from cellular injury resulting from exposure to therapeutic levels of DOX...
April 2015: Cardiovascular Toxicology
https://www.readbyqxmd.com/read/25192512/cerebral-creatine-deficiencies-a-group-of-treatable-intellectual-developmental-disorders
#18
REVIEW
Sylvia Stockler-Ipsiroglu, Clara D M van Karnebeek
Currently there are 91 treatable inborn errors of metabolism that cause intellectual developmental disorders. Cerebral creatine deficiencies (CDD) comprise three of these: arginine: glycine amidinotransferase [AGAT], guanidinoacetate methyltransferase [GAMT], and X-linked creatine transporter deficiency [SLC6A8]. Intellectual developmental disorder and cerebral creatine deficiency are the hallmarks of CDD. Additional clinical features include prominent speech delay, autism, epilepsy, extrapyramidal movement disorders, and signal changes in the globus pallidus...
July 2014: Seminars in Neurology
https://www.readbyqxmd.com/read/25044748/distal-xq28-microdeletions-clarification-of-the-spectrum-of-contiguous-gene-deletions-involving-abcd1-bcap31-and-slc6a8-with-a-new-case-and-review-of-the-literature
#19
Amy R U L Calhoun, Gerald V Raymond
The contiguous ABCD1/DXS1375E (BCAP31) deletion syndrome (CADDS) is a rare X-linked contiguous gene deletion syndrome with a severe clinical phenotype that includes marked delays, significant growth failure, liver dysfunction, and early death. The X-linked creatine transporter deficiency is a considerably more common and a cause of X-linked intellectual disability; however, multi-exon deletions of the creatine transporter are rare. We report the fifth case of CADDS, who also has a deletion of the X-linked creatine transporter...
October 2014: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/25027324/discovery-of-serum-protein-biomarkers-in-the-mdx-mouse-model-and-cross-species-comparison-to-duchenne-muscular-dystrophy-patients
#20
Yetrib Hathout, Ramya L Marathi, Sree Rayavarapu, Aiping Zhang, Kristy J Brown, Haeri Seol, Heather Gordish-Dressman, Sebahattin Cirak, Luca Bello, Kanneboyina Nagaraju, Terry Partridge, Eric P Hoffman, Shin'ichi Takeda, Jean K Mah, Erik Henricson, Craig McDonald
It is expected that serum protein biomarkers in Duchenne muscular dystrophy (DMD) will reflect disease pathogenesis, progression and aid future therapy developments. Here, we describe use of quantitative in vivo stable isotope labeling in mammals to accurately compare serum proteomes of wild-type and dystrophin-deficient mdx mice. Biomarkers identified in serum from two independent dystrophin-deficient mouse models (mdx-Δ52 and mdx-23) were concordant with those identified in sera samples of DMD patients. Of the 355 mouse sera proteins, 23 were significantly elevated and 4 significantly lower in mdx relative to wild-type mice (P-value < 0...
December 15, 2014: Human Molecular Genetics
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