Results 131 to 140 of about 13,220 (172)

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
T J, deGrauw, G S, Salomons, K M, Cecil, G, Chuck, A, Newmeyer, M B, Schapiro, C, Jakobs   +6 more
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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 ...
Ardon, O., di San Filippo, C.A., Salomons, G.S., Longo, N.   +3 more
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The clinical syndrome of creatine transporter deficiency

Molecular and Cellular Biochemistry, 2003
To 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, Kim M, Cecil, Anna W, Byars, Gajja S, Salomons, William S, Ball, Cornelis, Jakobs   +5 more
openaire   +2 more sources

Creatine Transporter Deficiency

2011
Abstract This chapter provides pictures and clinical details of CREATINE TRANSPORTER ...
Roger E. Stevenson, Charles E. Schwartz, R. Curtis Rogers   +2 more
openaire   +1 more source

Irreversible brain creatine deficiency with elevated serum and urine creatine: A creatine transporter defect?

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, G S, Salomons, W S, Ball, B, Wong, G, Chuck, N M, Verhoeven, C, Jakobs, T J, DeGrauw   +7 more
openaire   +2 more sources

Arginine and glycine stimulate creatine synthesis in creatine transporter 1-deficient lymphoblasts

Analytical Biochemistry, 2008
Creatine 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, Alessandri MG, Casarano M, Battini R, Cioni G   +4 more
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Response to creatine analogs in fibroblasts and patients with creatine transporter deficiency

Molecular Genetics and Metabolism, 2010
Creatine 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, Arias A, Sempere A, Póo P, Pineda M, Mas A, López-Sala A, Garcia-Villoria J, Vilaseca MA, Ozaez L, Lluch M, Artuch R, Campistol J, Ribes A   +13 more
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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
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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.
Adriano, Enrico, Gulino, Maurizio, Arkel, Maria, Salis, Annalisa, Damonte, Gianluca, Liessi, Nara, Millo, Enrico, Garbati, Patrizia, Balestrino, Maurizio   +8 more
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[Cerebral creatine transporter deficiency: an infradiagnosed neurometabolic disease].

Revista de neurologia, 2007
Brain creatine deficiencies are a group of inborn errors of metabolism recently recognized which are caused by arginine: glycine amidinotransferase (AGAT) deficiency, guanidinoacetate metiltransferase (GAMT) deficiency and defects in creatine transporter (CRTR).
Campistol J, Arias-Dimas A, Poo P, Pineda M, Hoffman M, Vilaseca MA, Artuch R, Ribes A   +7 more
openaire   +2 more sources