known disorders of creatine synthesis ..

AB - Creatine transporter deficit (CT1) is an inherited metabolic disorder that causes mental retardation, epilepsy, speech, language and behavioral deficits. Until now, no treatment has been proven to be successful for this condition. We describe 1-year follow-up study of a child, aged 9.6 years, with CT1 defect, on oral supplementation with l-arginine, a precursor of creatine synthesis. Under supplementation, he showed a noticeable improvement of neurological, language and behavioral status and an increase of brain creatine and phosphocreatine documented with magnetic resonance spectroscopy. The results suggest that children with CT1 disorder show some residual adaptive plasticity for certain functions even at quite an advanced age. Further trials with higher l-arginine dosages and more protracted treatment are encouraged.

CREATINE SYNTHESIS AND TRANSPORT DISORDERS - …

N2 - Creatine plays a major role in the energy supply of brain and muscle tissues. In creatine deficiency states, insufficient energy supply of the brain tissue may lead to mental retardation with speech delay and behavioural problems, epilepsy and extrapyramidal symptoms, while that of the muscle tissue might result in hypotonia. Creatine deficiency has been shown to result either from dysfunction of the two enzymes involved in its synthesis, namely arginine:glycine amidinotransferase and guanidinoacetic methyltransferase, or from impairment of the SLC6A8 transporter protein that is responsible for the cellular uptake of creatine. Synthesis disorders can be efficiently treated by creatine supplementation. The therapy is the most efficient if it is started in time, before the development of irreversible damages. Thus, in case of mental retardation associated with delayed speech development or behavioural problems, or epilepsy of unknown origin, diagnostic tests for creatine deficiency are recommended as early as possible. In creatine-transport disorder,the results of treatments to increase the intracellular creatine pool are controversial.


CRDPU - Clinical: Creatine Disorders Panel, Urine

Global and targeted geneexpression and protein content in skeletal muscle of young men followingshort-term creatine monohydrate supplementation.

N2 - Three inborn errors affecting creatine metabolism are known in humans: two disorders of creatine synthesis including arginine:glycine amidinotransferase (AGAT) deficiency (Item et al. 2001) and guanidinoacetate methyltransferase (GAMT) deficiency (Stoeckler et al. 1996b); and one disorder of cellular creatine transport, namely the X-linked creatine transporter (CRTR, SLC6A8) deficiency (Salomons et al. 2001). Cerebral creatine deficiency is the common biochemical feature, and therefore these disorders are also described as creatine deficiency syndromes (CDS) in the literature. So far, only four patients with AGAT deficiency and about 30 patientswithGAMTand 100 patients with CRTR deficiency have been diagnosed. Therefore, studies in a sufficient number of patients are widely lacking and recommendations on treatment and follow-up remain preliminary. Principles of treatment and critical discussion of the experience obtained so far are given in this Introduction. In the tables, guidelines for the practical management of a patient are given that might allow comparison of data obtained fromsingle patients and finally find out evidence for the most effective treatment strategies. Clinical and Biochemical Phenotype.


Congenital disorders of creatine metabolism;

Creatine supplementation can be beneficial for older individuals as well as people just starting out on a resistance exercise program. Supplementation has been shown to improve protein synthesis, enhance cell hydration, increase growth hormone levels, and lower excess cholesterol. In 1997 Italian researchers discovered that retaining muscle mass is the most important determining factor in our ability to experience a longer, healthier life. Studies indicate that a loss of muscle mass correlates to loss of brain function and nervous system function.

Moved Permanently. The document has moved here.

N2 - Creatine transporter deficit (CT1) is an inherited metabolic disorder that causes mental retardation, epilepsy, speech, language and behavioral deficits. Until now, no treatment has been proven to be successful for this condition. We describe 1-year follow-up study of a child, aged 9.6 years, with CT1 defect, on oral supplementation with l-arginine, a precursor of creatine synthesis. Under supplementation, he showed a noticeable improvement of neurological, language and behavioral status and an increase of brain creatine and phosphocreatine documented with magnetic resonance spectroscopy. The results suggest that children with CT1 disorder show some residual adaptive plasticity for certain functions even at quite an advanced age. Further trials with higher l-arginine dosages and more protracted treatment are encouraged.

Disorders of Creatine Transport and Metabolism

AB - Creatine plays a major role in the energy supply of brain and muscle tissues. In creatine deficiency states, insufficient energy supply of the brain tissue may lead to mental retardation with speech delay and behavioural problems, epilepsy and extrapyramidal symptoms, while that of the muscle tissue might result in hypotonia. Creatine deficiency has been shown to result either from dysfunction of the two enzymes involved in its synthesis, namely arginine:glycine amidinotransferase and guanidinoacetic methyltransferase, or from impairment of the SLC6A8 transporter protein that is responsible for the cellular uptake of creatine. Synthesis disorders can be efficiently treated by creatine supplementation. The therapy is the most efficient if it is started in time, before the development of irreversible damages. Thus, in case of mental retardation associated with delayed speech development or behavioural problems, or epilepsy of unknown origin, diagnostic tests for creatine deficiency are recommended as early as possible. In creatine-transport disorder,the results of treatments to increase the intracellular creatine pool are controversial.