Results 121 to 130 of about 350 (155)

Epilepsy spectrum in cerebral creatine transporter deficiency. Genothype correlation

, 2008
Fons, C, Sanmarti, F, Sempere, A, Poo, P, Pineda, M, Arias, A, Ribes, A, Artuch, R, Vilaseca, MA, Campistol, J   +9 more
openaire   +2 more sources

Molecular and Biochemical Diagnosis of Cerebral Creatine Deficiency Syndromes

, 2006
openaire   +1 more source

High cerebral guanidinoacetate and variable creatine concentrations in argininosuccinate synthetase and lyase deficiency: Implications for treatment?

Molecular Genetics and Metabolism, 2006
Cerebral creatine and guanidinoacetate and blood and urine metabolites were studied in four patients with argininosuccinate synthetase (ASS) or argininosuccinate lyase (ASL) deficiency receiving large doses of arginine. Urine and blood metabolites varied largely.
F J Van Spronsen, D J Reijngoud, N M Verhoeven   +2 more
exaly   +4 more sources

Cerebral Creatine Deficiency Disorders

, 2017
Cerebral creatine deficiency disorders that result in very low levels of creatine in the brain, can cause in intellectual disability, seizures, expressive speech disorder and behavior disorders if not treated in early childhood. CCDDs comprise disorders of creatine synthesis (arginine:glycine [AGAT; MIM 602360]; guanidinoacetate methyltransferase ...
Peter W. Schutz, Sylvia Stockler
exaly   +3 more sources

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Laboratory Diagnosis of Cerebral Creatine Deficiency Syndromes by Determining Creatine and Guanidinoacetate in Plasma and Urine

Methods in Molecular Biology, 2022
Cerebral creatine deficiency syndromes are caused by the dysfunctional creatine biosynthesis or transport and comprise three hereditary neurodevelopmental defects including arginine-glycine amidinotransferase (AGAT), guanidinoacetate methyltransferase (GAMT), and creatine transporter deficiencies.
Qin Sun
exaly   +3 more sources

Cerebral Creatine Deficiencies: A Group of Treatable Intellectual Developmental Disorders

Seminars in Neurology, 2014
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
Stockler-Ipsiroglu, Sylvia, van Karnebeek, Clara D. M.   +1 more
openaire   +4 more sources

Cerebral creatine deficiency disorders – A clinical, genetic and follow up study from India

Brain and Development, 2022
Cerebral creatine deficiency syndromes (CCDS) are a group of potentially treatable neurometabolic disorders. The clinical, genetic profile and follow up outcome of Indian CCDS patients is presented.This was a retrospective cohort of CCDS patients seen over six-years.
Gouri Rao Passi, Akella Radha Rama Devi, Ramesh Konanki   +2 more
exaly   +3 more sources

Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes

Molecular Genetics and Metabolism, 2013
Cerebral creatine deficiency syndromes (CCDS) are a group of inborn errors of creatine metabolism that involve AGAT and GAMT for creatine biosynthesis disorders and SLC6A8 for creatine transporter (CT1) deficiency. Deficiencies in the three enzymes can be distinguished by intermediate metabolite levels, and a definitive diagnosis relies on the presence
VÍCTOR Wei Zhang, Eric S Schmitt, William J Craigen   +2 more
exaly   +3 more sources

Quantification of Creatine and Guanidinoacetate Using GC‐MS and LC‐MS/MS for the Detection of Cerebral Creatine Deficiency Syndromes

Current Protocols in Human Genetics, 2007
AbstractInherited defects in creatine biosynthesis and cellular uptake are neurometabolic disorders characterized by seizures, developmental delay, mental retardation, autistic‐like behavior, and creatine deficiency in the brain. Metabolic screening of these disorders is possible using analytical techniques that quantify creatine and its precursor ...
Sarah P Young, Eduard Struys, Tim Wood
exaly   +3 more sources

A simple screening method using ion chromatography for the diagnosis of cerebral creatine deficiency syndromes

Amino Acids, 2011
Cerebral creatine deficiency syndromes (CCDS) are caused by genetic defects in L-arginine:glycine amidinotransferase, guanidinoacetate methyltransferase or creatine transporter 1. CCDS are characterized by abnormal concentrations of urinary creatine (CR), guanidinoacetic acid (GA), or creatinine (CN).
Takahito Wada, Hiroko Shimbo, Hitoshi Osaka   +2 more
exaly   +3 more sources