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Creatine Supplementation Reduces Guanidinoacetate via Downregulation of AGAT in a Mouse Model of GAMT Deficiency. [PDF]

J Inherit Metab Dis
Tkachyova I, Wang D, Lee A, Rößler P, Atienza J, Feugmann J, Guischard N, Hui A, Shi C, Schulze A.   +9 more
europepmc   +1 more source

Delineation of Facial Dysmorphology in Males With Creatine Transporter Defect. [PDF]

Am J Med Genet A
Perreault J, Porter FD, Nowaczyk MJM.
europepmc   +1 more source

Di-acetyl creatine ethyl ester, a new creatine derivative for the possible treatment of creatine transporter deficiency

Neuroscience Letters, 2018
Creatine is pivotal in energy metabolism of the brain. In primary creatine deficiency syndromes, creatine is missing from the brain. Two of them (AGAT and GAMT deficiency) are due to impaired creatine synthesis, and can be treated by creatine supplementation.
Gianluca Damonte, Nara Liessi, Annalisa Salis   +2 more
exaly   +4 more sources

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SLC6A8 creatine transporter deficiency can be detected by plasma creatine and creatinine concentrations

Molecular Genetics and Metabolism
Creatine transporter deficiency has been described with normal or uninformative levels of creatine and creatinine in plasma, while urine has been the preferred specimen type for biochemical diagnosis.
Dimitar Gavrilov
exaly   +4 more sources

Congenital Creatine Transporter Deficiency

Neuropediatrics, 2002
Two inborn errors of metabolism of creatine synthesis as well as the X-linked creatine transporter (SLC6A8) deficiency have been recognized. This report describes the features of five identified male patients and their female relatives who are carriers of the X-linked creatine transporter deficiency syndrome.Proton MR spectroscopy was used to recognize
Kim Cecil, G S Salomons
exaly   +3 more sources

X‐linked creatine transporter deficiency: clinical aspects and pathophysiology

Journal of Inherited Metabolic Disease, 2014
AbstractCreatine transporter deficiency was discovered in 2001 as an X‐linked cause of intellectual disability characterized by cerebral creatine deficiency. This review describes the current knowledge regarding creatine metabolism, the creatine transporter and the clinical aspects of creatine transporter deficiency.
van de Kamp, J.M., Mancini, G.M., Salomons, G.S.   +2 more
openaire   +3 more sources

Dodecyl creatine ester, a promising treatment to deliver creatine to neurons, achieves pharmacology efficacy in creatine transporter deficiency.

European journal of medicinal chemistry
Dodecyl creatine ester (DCE) is a creatine prodrug currently developed for brain diseases, including creatine transporter deficiency (CTD), an incurable rare genetic disease.
Clémence Disdier, Clara Lhotellier, Anne-Cécile Guyot, N. Costa, F. Théodoro, A. Pruvost, Matthew R. Skelton, Thomas Joudinaud, A. Mabondzo, Henri Bénech   +9 more
semanticscholar   +2 more sources

Creatine transporter deficiency in two half‐brothers

American Journal of Medical Genetics, Part A, 2010
AbstractX‐linked cerebral creatine deficiency is caused by the deficiency of the creatine transporter encoded by the SLC6A8 gene. Here, we report two half‐brothers with this condition and characterize creatine transport in human fibroblasts. The propositus presented at 6 months of age with delays in development and slow progress since then with no ...
Nicola Longo
exaly   +5 more sources

Arginine, glycine, and creatine supplementation improves symptoms in a female with creatine transporter deficiency.

Psychiatric Genetics
X-linked creatine transporter deficiency is caused by hemizygous or heterozygous pathogenic variants in SLC6A8 that cause neuropsychiatric symptoms because of impaired uptake of creatine into tissues throughout the body. Small cohorts have suggested that
Kara Tauer, Caroline Theile, Joshua W. Owens, K. M. Cecil, Amelle Shillington   +4 more
semanticscholar   +3 more sources