Results 131 to 140 of about 350 (155)

ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes

Molecular Genetics and Metabolism
Cerebral creatine deficiency syndromes (CCDS) are inherited metabolic phenotypes of creatine synthesis and transport. There are two enzyme deficiencies, guanidinoacetate methyltransferase (GAMT), encoded by GAMT and arginine-glycine amidinotransferase (AGAT), encoded by GATM, which are involved in the synthesis of creatine. After synthesis, creatine is
Emily Groopman, Meredith Weaver
exaly   +3 more sources

Treatment of Creatine Transporter (SLC6A8) Deficiency With Oral S-Adenosyl Methionine as Adjunct to L-arginine, Glycine, and Creatine Supplements

Pediatric Neurology, 2015
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.
Mary Dunbar, Cristina Mignone, Rajavel Elango   +2 more
exaly   +2 more sources

1H MR spectroscopy as a diagnostic tool for cerebral creatine deficiency

Magnetic Resonance Materials in Physics, Biology and Medicine, 2008
Total creatine (tCr) constitutes one of the most prominent signals in human brain MR spectra. A significant decrease in the tCr signal indicates a severe disorder of creatine metabolism. We describe the potential of 1H MR spectroscopy in differential diagnosis of creatine transporter (SLC6A8) deficiency syndrome.Two siblings, a 7-year-old female ...
Monika, Dezortova, Filip, Jiru, Jan, Petrasek, Vera, Malinova, Jiri, Zeman, Milan, Jirsa, Milan, Hajek   +6 more
openaire   +2 more sources

Cerebral creatine deficiency syndrome with a novel missense variant in SLC6A8 gene

Neurology and Clinical Neuroscience, 2023
AbstractCerebral creatine deficiency syndromes (CCDS) are three metabolic diseases characterized by loss of function in three proteins (GATM, GAMT, and SLC6A8) that required in creatine (Cr) synthesis pathway and transport. In this study, we aimed to identify the causal variant in a male who was 12‐year‐old manifesting intellectual disability (ID ...
Betül Turan, Emine Göktaş, F. Mujgan Sönmez, Halil Ibrahim Aydin, Demet Aydogdu, Ayse Gul Zamani, Mahmut Selman Yildirim   +6 more
openaire   +1 more source

Treatment of X-linked creatine transporter (SLC6A8) deficiency: systematic review of the literature and three new cases

Molecular Genetics and Metabolism, 2014
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 ...
Mary Dunbar, Michael Sargent, Sylvia Stöckler-Ipsiroglu   +2 more
exaly   +2 more sources

Ammonium alters creatine transport and synthesis in a 3D culture of developing brain cells, resulting in secondary cerebral creatine deficiency

European Journal of Neuroscience, 2008
AbstractHyperammonemic disorders in pediatric patients lead to poorly understood irreversible effects on the developing brain that may be life‐threatening. We showed previously that some of these NH4+‐induced irreversible effects might be due to impairment of axonal growth that can be protected under ammonium exposure by creatine co‐treatment.
Braissant, O, Cagnon, L, Monnet-Tschudi, F, Speer, O, Wallimann, T, Honegger, P, Henry, H   +6 more
openaire   +4 more sources

Cerebral Creatine Deficiency Syndromes: Clinical Aspects, Treatment and Pathophysiology

2007
Cerebral creatine deficiency syndromes (CCDSs) are a group of inborn errors of creatine metabolism comprising two autosomal recessive disorders that affect the biosynthesis of creatine--i.e. arginine:glycine amidinotransferase deficiency (AGAT; MIM 602360) and guanidinoacetate methyltransferase deficiency (GAMT; MIM 601240)--and an X-linked defect that
Sylvia, Stockler, Peter W, Schutz, Gajja S, Salomons   +2 more
openaire   +2 more sources

[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

Benefits and drawbacks of guanidinoacetic acid as a possible treatment to replenish cerebral creatine in AGAT deficiency

Nutritional Neuroscience, 2017
Arginine-glycine amidinotransferase (AGAT) deficiency is a rare inherited metabolic disorder that severely affects brain bioenergetics. Characterized by mental retardation, language impairment, and behavioral disorders, AGAT deficiency is a treatable condition, where long-term creatine supplementation usually restores brain creatine levels and improves
openaire   +2 more sources

[Clinical and genetic analysis of a child with Cerebral creatine deficiency syndrome due to variant of SLC6A8 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2023
To explore the clinical features and genetic variant in a child with Cerebral creatine deficiency syndrome (CCDS).A child who had presented at the Affiliated Children's Hospital of Fudan University on March 5, 2021 was selected as the study subject. Whole exome sequencing (WES) was carried out for the child, and candidate variant was verified by Sanger
Yunjiang, Zhang, Yifeng, Ding, Yijie, Li, Shuizhen, Zhou   +3 more
openaire   +1 more source