Guanidinoacetate N-methyltransferase deficiency: Case report and brief review of the literature [PDF]
Radiology Case Reports, 2023 Guanidinoacetate N-methyltransferase (GAMT) deficiency is a rare autosomal recessive disorder characterized by a decrease in creatine synthesis, resulting in cerebral creatine deficiency syndrome (CCDS). GAMT deficiency is caused by mutations in the GAMT
Joshua L Libell +2 more
exaly +7 more sources
Age-Dependent Decline in Cardiac Function in Guanidinoacetate-N-Methyltransferase Knockout Mice [PDF]
Frontiers in Physiology, 2020 AimGuanidinoacetate N-methyltransferase (GAMT) is the second essential enzyme in creatine (Cr) biosynthesis. Short-term Cr deficiency is metabolically well tolerated as GAMT–/– mice exhibit normal exercise capacity and response to ischemic heart failure.
Dunja Aksentijević +7 more
doaj +8 more sources
Dynamic electro‐clinical features in Guanidinoacetate N‐methyltransferase deficiency: A familial case series [PDF]
Epilepsia OpenGuanidinoacetate N‐methyltransferase deficiency is an inborn error of creatine metabolism, responsible for the absent conversion of guanidinoacetic acid into creatine, resulting in cerebral creatine deficit. It could present a variety of symptoms such as
Mariapaola Schifino +5 more
doaj +7 more sources
Processing mechanism of guanidinoacetate in choroid plexus epithelial cells: conversion of guanidinoacetate to creatine via guanidinoacetate N-methyltransferase and monocarboxylate transporter 12-mediated creatine release into the CSF [PDF]
Fluids and Barriers of the CNS, 2022 Background Guanidinoacetate (GAA) induces epileptogenesis and neurotoxicity in the brain. As epileptic animal models have been reported to show elevated cerebral GAA levels, the processing mechanism of GAA in the brain is important for maintaining brain ...
Ryuta Jomura +4 more
doaj +5 more sources
Gene therapy for guanidinoacetate methyltransferase deficiency restores cerebral and myocardial creatine while resolving behavioral abnormalities [PDF]
Molecular Therapy - Methods and Clinical Development, 2022 Creatine deficiency disorders are inborn errors of creatine metabolism, an energy homeostasis molecule. One of these, guanidinoacetate N-methyltransferase (GAMT) deficiency, has clinical characteristics that include features of autism, self-mutilation ...
Suhail Khoja, P Patel, Itzhak Nissim
exaly +4 more sources
Reconstitution of Methionine Cycle With ATP Regeneration for Whole‐Cell Catalysis of Creatine Production in Engineered Escherichia coli [PDF]
Microbial BiotechnologyCreatine (CR) is a naturally occurring amino acid derivative that plays a key role in cellular energy homeostasis, which has wide‐ranging applications in food and medicine.
Yuhua Sheng +8 more
doaj +3 more sources
Cardiac structure and function during ageing in energetically compromised Guanidinoacetate N-methyltransferase (GAMT)-knockout mice – a one year longitudinal MRI study [PDF]
Journal of Cardiovascular Magnetic Resonance, 2008 Background High-resolution magnetic resonance imaging (cine-MRI) is well suited for determining global cardiac function longitudinally in genetically or surgically manipulated mice, but in practice it is seldom used to its full potential.
Clarke Kieran +8 more
doaj +8 more sources
Phenotypic and Molecular Spectrum of Guanidinoacetate N-Methyltransferase Deficiency: An Analytical Study of a Case Series and a Scoping Review of 53 Cases of Guanidinoacetate N-Methyltransferase. [PDF]
J Microsc Ultrastruct, 2022 AbstractBackground:Guanidinoacetate methyltransferase deficiency (GAMT) is an autosomal recessive inborn error of metabolism. A condition that results from a pathogenic variant in the GAMT gene that maps to 19p13.3. The prevalence can be estimated to be up to 1:2,640,000 cases; countries such as Saudi Arabia could have a higher prevalence due to high ...
Alyazidi AS +7 more
europepmc +3 more sources
Diagnostic delay in cerebral creatine deficiency disorders: lessons learned from a cross-sectional single center study, and guanidinoacetate and creatine measurements in Switzerland between 2015 and 2023 [PDF]
Molecular and Cellular PediatricsBackground Cerebral creatine deficiency disorders (CCDD) are rare diseases caused by defects in the enzymes L-arginine: glycine amidinotransferase (AGAT) or guanidinoacetate-N-methyltransferase (GAMT), which are involved in synthesis of creatine; or by a
Christina Kaufman +5 more
doaj +2 more sources
Efficient biosynthesis of creatine by whole-cell catalysis from guanidinoacetic acid in Corynebacterium glutamicum [PDF]
Synthetic and Systems BiotechnologyCreatine is a naturally occurring derivative of an amino acid commonly utilized in functional foods and pharmaceuticals. Nevertheless, the current industrial synthesis of creatine relies on chemical processes, which may hinder its utilization in certain ...
Chunjian Li +7 more
doaj +2 more sources