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Creatine transport and pathological changes in creatine transporter deficient mice
Journal of Inherited Metabolic Disease, 2021AbstractThe severe impact on brain function and lack of effective therapy for patients with creatine (Cr) transporter deficiency motivated the generation of three ubiquitous Slc6a8 deficient mice (−/y). While each mouse knock‐out line has similar behavioral effects at 2 to 3 months of age, other features critical to the efficient use of these mice in ...
Adam M. Wawro +5 more
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Treatment outcome of creatine transporter deficiency: international retrospective cohort study
Metabolic Brain Disease, 2018 peer reviewedTo evaluate the outcome of current treatment for creatine transporter (CRTR) deficiency, we developed a clinical severity score and initiated an international treatment registry.
Marie-Cécile Nassogne +2 more
exaly +2 more sources
The clinical syndrome of creatine transporter deficiency
Molecular and Cellular Biochemistry, 2003To describe the clinical, spectroscopic and neuropsychological features of the first family diagnosed with a defect in the creatine transporter. Proton Magnetic Resonance Spectroscopy (MRS) indicated an absence of creatine and phosphocreatine in the brain of a male patient characterized by developmental delay, mild epilepsy and severe expressive ...
Ton J, deGrauw +5 more
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Response to creatine analogs in fibroblasts and patients with creatine transporter deficiency
Molecular Genetics and Metabolism, 2010Creatine transporter (CRTR) deficiency is one of the most frequent causes of X-linked mental retardation. The lack of an effective treatment for this disease, in contrast to creatine (Cr) biosynthesis disorders that respond to Cr monohydrate (CM), led us to analyze the efficacy of a lipophilic molecule derived from Cr, creatine ethyl ester (CEE), in ...
Fons C +13 more
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Creatine Transporter Deficiency
2011Abstract XLID caused by cerebral creatine deficiency with decreased muscle mass, hypotonia, expressive language impairment, seizures, and aberrant behavior. Mutations in the solute transporter SLC6A8 are the cause and may represent one of the most common causes of XLID (1–3%).
Roger E. Stevenson +2 more
openaire +1 more source
Annals of Neurology, 2001
AbstractRecent reports highlight the utility of in vivo magnetic resonance spectroscopy (MRS) techniques to recognize creatine deficiency syndromes affecting the central nervous system (CNS). Reported cases demonstrate partial reversibility of neurologic symptoms upon restoration of CNS creatine levels with the administration of oral creatine.
K M, Cecil +7 more
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AbstractRecent reports highlight the utility of in vivo magnetic resonance spectroscopy (MRS) techniques to recognize creatine deficiency syndromes affecting the central nervous system (CNS). Reported cases demonstrate partial reversibility of neurologic symptoms upon restoration of CNS creatine levels with the administration of oral creatine.
K M, Cecil +7 more
openaire +2 more sources
Arginine and glycine stimulate creatine synthesis in creatine transporter 1-deficient lymphoblasts
Analytical Biochemistry, 2008Creatine transporter 1 (CT1) defect is an X-linked disease that causes severe neurological impairment. No treatment has been available for this condition so far. Because the transport of creatine (Cr) precursors Gly and Arg is not affected in this disorder, we tested the possible corrective effect of these two amino acids on Cr depletion in ...
Leuzzi V +4 more
openaire +2 more sources
Neurology
BACKGROUND AND OBJECTIVES Creatine transporter deficiency (CTD) is a rare X-linked genetic disorder characterized by intellectual disability (ID). We evaluated the clinical characteristics and trajectory of patients with CTD and the impact of the disease
A. Curie +16 more
semanticscholar +1 more source
BACKGROUND AND OBJECTIVES Creatine transporter deficiency (CTD) is a rare X-linked genetic disorder characterized by intellectual disability (ID). We evaluated the clinical characteristics and trajectory of patients with CTD and the impact of the disease
A. Curie +16 more
semanticscholar +1 more source
Response to therapy of creatine transporter deficiency caused by a hypomorphic variant in SLC6A8.
Molecular Genetics and MetabolismCerebral creatine deficiency syndromes (CCDS) are rare inherited metabolic disorders caused by defective biosynthesis or transport of creatine.
N. Longo +4 more
semanticscholar +1 more source
A novel mouse model of creatine transporter deficiency
F1000Research, 2014Tommaso Pizzorusso +2 more
exaly +2 more sources