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SLC6A8 deficiency

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https://www.readbyqxmd.com/read/27408820/creatine-transporter-deficiency-novel-mutations-and-functional-studies
#1
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
#2
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
#3
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/26861125/creatine-synthesis-and-exchanges-between-brain-cells-what-can-be-learned-from-human-creatine-deficiencies-and-various-experimental-models
#4
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
#5
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/26542286/creatine-biosynthesis-and-transport-in-health-and-disease
#6
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
#7
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
#8
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
#9
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
#10
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/25485098/a-novel-mouse-model-of-creatine-transporter-deficiency
#11
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/25192512/cerebral-creatine-deficiencies-a-group-of-treatable-intellectual-developmental-disorders
#12
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
#13
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/24962355/rna-sequencing-of-creatine-transporter-slc6a8-deficient-fibroblasts-reveals-impairment-of-the-extracellular-matrix
#14
Benjamin Nota, Joseph D T Ndika, Jiddeke M van de Kamp, Warsha A Kanhai, Silvy J M van Dooren, Mark A van de Wiel, Gerard Pals, Gajja S Salomons
Creatine transporter (SLC6A8) deficiency is the most common cause of cerebral creatine syndromes, and is characterized by depletion of creatine in the brain. Manifestations of this X-linked disorder include intellectual disability, speech/language impairment, behavior abnormalities, and seizures. At the moment, no effective treatment is available. In order to investigate the molecular pathophysiology of this disorder, we performed RNA sequencing on fibroblasts derived from patients. The transcriptomes of fibroblast cells from eight unrelated individuals with SLC6A8 deficiency and three wild-type controls were sequenced...
September 2014: Human Mutation
https://www.readbyqxmd.com/read/24953403/treatment-of-x-linked-creatine-transporter-slc6a8-deficiency-systematic-review-of-the-literature-and-three-new-cases
#15
REVIEW
Mary Dunbar, Sravan Jaggumantri, Michael Sargent, Sylvia Stockler-Ipsiroglu, Clara D M van Karnebeek
BACKGROUND: Creatine transporter deficiency (CTD) is an X-linked inborn error of creatine metabolism characterized by reduced intra-cerebral creatine, developmental delay/intellectual disability, (ID), behavioral disturbance, seizures, and hypotonia in individuals harboring mutations in the SLC6A8 gene. Treatment for CTD includes supplementation with creatine, either alone or in combination with creatine precursors (arginine or glycine). Unlike other disorders of creatine metabolism, the efficacy of its treatment remains controversial...
August 2014: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/24597975/genotype-phenotype-correlation-of-contiguous-gene-deletions-of-slc6a8-bcap31-and-abcd1
#16
J M van de Kamp, A Errami, M Howidi, I Anselm, S Winter, J Phalin-Roque, H Osaka, S J M van Dooren, G M Mancini, S J Steinberg, G S Salomons
The BCAP31 gene is located between SLC6A8, associated with X-linked creatine transporter deficiency, and ABCD1, associated with X-linked adrenoleukodystrophy. Recently, loss-of-function mutations in BCAP31 were reported in association with severe developmental delay, deafness and dystonia. We characterized the break points in eight patients with deletions of SLC6A8, BCAP31 and/or ABCD1 and studied the genotype-phenotype correlations. The phenotype in patients with contiguous gene deletions involving BCAP31 overlaps with the phenotype of isolated BCAP31 deficiency...
February 2015: Clinical Genetics
https://www.readbyqxmd.com/read/24190795/a-novel-slc6a8-mutation-in-a-large-family-with-x-linked-intellectual-disability-clinical-and-proton-magnetic-resonance-spectroscopy-data-of-both-hemizygous-males-and-heterozygous-females
#17
S Dreha-Kulaczewski, V Kalscheuer, A Tzschach, H Hu, G Helms, K Brockmann, A Weddige, P Dechent, G Schlüter, R Krätzner, H-H Ropers, J Gärtner, B Zirn
X-linked creatine transport (CRTR) deficiency, caused by mutations in the SLC6A8 gene, leads to intellectual disability, speech delay, epilepsy, and autistic behavior in hemizygous males. Additional diagnostic features are depleted brain creatine levels and increased creatine/creatinine ratio (cr/crn) in urine. In heterozygous females the phenotype is highly variable and diagnostic hallmarks might be inconclusive. This survey aims to explore the intrafamilial variability of clinical and brain proton Magnetic Resonance Spectroscopy (MRS) findings in males and females with CRTR deficiency...
2014: JIMD Reports
https://www.readbyqxmd.com/read/24144841/cloning-and-characterization-of-the-promoter-regions-from-the-parent-and-paralogous-creatine-transporter-genes
#18
Joseph D T Ndika, Vera Lusink, Claudine Beaubrun, Warsha Kanhai, Cristina Martinez-Munoz, Cornelis Jakobs, Gajja S Salomons
Interconversion between phosphocreatine and creatine, catalyzed by creatine kinase is crucial in the supply of ATP to tissues with high energy demand. Creatine's importance has been established by its use as an ergogenic aid in sport, as well as the development of intellectual disability in patients with congenital creatine deficiency. Creatine biosynthesis is complemented by dietary creatine uptake. Intracellular transport of creatine is carried out by a creatine transporter protein (CT1/CRT/CRTR) encoded by the SLC6A8 gene...
January 10, 2014: Gene
https://www.readbyqxmd.com/read/24140398/detection-of-a-novel-intragenic-rearrangement-in-the-creatine-transporter-gene-by-next-generation-sequencing
#19
Hui Yu, Clara van Karnebeek, Graham Sinclair, Alan Hill, Hong Cui, Victor Wei Zhang, Lee-Jun Wong
Deficiency caused by mutations in the creatine transporter gene (SLC6A8/CT1) is an X-linked form of intellectual disability. The presence of highly homologous pseudogenes and high GC content of SLC6A8 genomic sequence complicates the molecular diagnosis of this disorder. To minimize the pseudogene interference, exons 2 to 13 of SLC6A8 were amplified as a single PCR product using gene-specific long-range PCR (LR-PCR) primers. The GC-rich exon 1 and its flanking intronic sequences were amplified separately in a short fragment under GC-rich conditions and a touchdown PCR program...
December 2013: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/24137762/the-screening-of-slc6a8-deficiency-among-estonian-families-with-x-linked-mental-retardation
#20
H Puusepp, K Kall, G S Salomons, I Talvik, M Männamaa, R Rein, C Jakobs, K Õunap
The urinary creatine:creatinine (Cr:Crn) ratio was measured in males from 49 families with a family history compatible with X-linked mental retardation (XLMR) in order to estimate the prevalence of SLC6A8 deficiency in Estonia. We identified 11 boys from 9 families with an increased urinary Cr:Crn ratio (18%). In three related boys, a hemizygous missense mutation (c.1271G>A; p.Gly424Asp) was identified. Their mother was heterozygous for the same mutation. Although many missense mutations have been described, the p...
December 2010: Journal of Inherited Metabolic Disease
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