Creatine and Creatine Deficiency Syndromes: Biochemical and Clinical Aspects

Nasrallah, Fahmi; Feki, Moez; Kaabachi, Naziha

doi:10.1016/j.pediatrneurol.2009.07.015

Cited by 85 publications

(54 citation statements)

References 86 publications

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“…In the past, phenylketonuria was often reported to be associated with autistic features, but due to newborn screening, it is less commonly observed. Autistic features have also been reported in association other metabolic disorders, including creatine deficiency syndromes, 29 urea cycle disorders, 30 Wilson's disease, and Lesch-Nyhan syndrome. 31 Space does not allow for a full review of many of these conditions.…”

Section: Metabolic Disordersmentioning

confidence: 95%

Medical Comorbidities in Autism: Challenges to Diagnosis and Treatment

2010

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Summary:Ever since its original description by Leo Kanner in l943, autism has been generally defined by its clinical characteristics and core symptoms that include impaired social skills, isolated areas of interest, and delayed and disordered language. Over time, it has become apparent that autism is a heterogeneous disorder with regard to its clinical presentation, etiology, underlying neurobiology, and degree of severity. As a result, the termed diagnosis of autism spectrum disorders (ASDs) has come into common usage. With advancements in clinical care, there has come the appreciation that many ASD children, adolescents, and adults may have medically relevant disorders that may negatively impact their developmental progress and behavior, but which frequently go undetected. Many of these medical conditions are treatable, often resulting in improved developmental gains and quality of life for the patient and family. In addition, the possibility exists that some of these medical conditions may suggest the presence of important genetic and/or biologic markers, which, if identified, can refine our ability to be more precise in categorizing clinical and genetic subtypes within the autism spectrum.

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Section: Metabolic Disordersmentioning

confidence: 95%

Medical Comorbidities in Autism: Challenges to Diagnosis and Treatment

2010

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“…CK inhibition diminishes the velocity of phosphoryl transference, reducing instantaneous creatine pool in cytosol and mitochondria, causing an alteration in the energy homeostasis (Nasrallah et al 2010). Both enzymes, CK and AK, are intimately associated in such a way that when one enzyme activity is reduced, the activity of the other enzyme is enhanced (Dzeja et al 2002).…”

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confidence: 99%

Thiol/disulfide status regulates the activity of thiol-containing kinases related to energy homeostasis in rat kidney

Rech

Mezzomo

Athaydes

et al. 2017

An. Acad. Bras. Ciênc.

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Considering that thiol-containing enzymes like kinases are critical for several metabolic pathways and energy homeostasis, we investigated the effects of cystine dimethyl ester and/or cysteamine administration on kinases crucial for energy metabolism in the kidney of Wistar rats. Animals were injected twice a day with 1.6 µmol/g body weight cystine dimethyl ester and/or 0.26 µmol/g body weight cysteamine from the 16 th to the 20 th postpartum day and euthanized after 12 hours. Pyruvate kinase, adenylate kinase, creatine kinase activities and thiol/disulfide ratio were determined. Cystine dimethyl ester administration reduced thiol/disulfide ratio and inhibited the kinases activities. Cysteamine administration increased the thiol/ disulfide ratio and co-administration with cystine dimethyl ester prevented the inhibition of the enzymes. Regression between the thiol/disulfide ratio, and the kinases activities were significant. These results suggest that redox status may regulate energy metabolism in the rat kidney. If thiol-containing enzymes inhibition and oxidative stress occur in patients with cystinosis, it is possible that lysosomal cystine depletion may not be the only beneficial effect of cysteamine administration, but also its antioxidant and thiol-protector effect.

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“…The guanidine compound of CR, or α-methyl-guanidinoacetic acid, is a naturally occurring, nitrogenous amino acid composition, synthesised from three amino acids: glycine, arginine and methionine, and three enzymes: L-arginine:glycine amidinotransferase (AGAT), methionine adenosyltransferase (MAT) and guanidinoacetate methyltransferase (GAMT) [1,13,19,20]. The endogenous production of CR is initiated in the kidney by the transfer of arginine to glycine, (catalysed by AGAT), yielding L-ornithine and guanidinoacetate.…”

Section: Creatine Synthesismentioning

confidence: 99%

An Update on Effects of Creatine Supplementation on Performance: A Review

Dorrell¹,

Gee²,

Middleton³

2016

Sports Nutr Ther

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Supplementary creatine, available in many different forms but most commonly monohydrate, is a legal and reportedly safe to consume nutritional ergogenic aid. After searching internationally recognised research databases, this review provides and update on the current literature on the physiological effects of creatine supplementation on performance whilst also discussing the underlying physiology regarding the synthesis and dietary provision of creatine as well as addressing issues of safety and the ethical considerations of usage. Research has shown that regular consumption of supplementary creatine can raise associated content within skeletal muscle. Subsequently, there is an extensive, and still growing, body of the literature supporting the efficacy of creatine supplementation on enhancing exercise performance, exercise tolerance, muscle strength and lean body mass. Moreover, little scientific evidence exists showing any unfavourable effects on individuals who are free from illness and disease. This review consolidates the current literature and provides application to the athletic setting which is purposeful for those choosing to either recommend or consume this nutritional ergogenic aid. At this current time, a traditional loading and maintenance supplementation protocol is advised as contemporary research studies are still to unravel the benefits of alternative approaches.

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Creatine and Creatine Deficiency Syndromes: Biochemical and Clinical Aspects

Cited by 85 publications

References 86 publications

Medical Comorbidities in Autism: Challenges to Diagnosis and Treatment

Medical Comorbidities in Autism: Challenges to Diagnosis and Treatment

Thiol/disulfide status regulates the activity of thiol-containing kinases related to energy homeostasis in rat kidney

An Update on Effects of Creatine Supplementation on Performance: A Review

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