Biochemical and clinical characteristics of creatine deficiency syndromes.

• Authors: Jolanta Sykut-Cegielska , Wanda Gradowska , Saadet Mercimek-Mahmutoglu , Sylvia Stöckler-Ipsiroglu
• Languages of publication: EN

Abstracts

EN

Creatine deficiency syndromes are a newly described group of inborn errors of creatine synthesis (arginine:glycine amidinotransferase (AGAT) deficiency and guanidinoacetate methyltransferase (GAMT) deficiency) and of creatine transport (creatine transporter (CRTR) deficiency). The common clinical feature of creatine deficiency syndromes is mental retardation and epilepsy suggesting main involvement of cerebral gray matter. The typical biochemical abnormality of creatine deficiency syndromes is cerebral creatine deficiency, which is demonstrated by in vivo proton magnetic resonance spectroscopy. Measurement of guanidinoacetate in body fluids may discriminate between the GAMT (high concentration), AGAT (low concentration) and CRTR (normal concentration) deficiencies. Further biochemical characteristics include changes in creatine and creatinine concentrations in body fluids. GAMT and AGAT deficiency are treatable by oral creatine supplementation, while patients with CRTR deficiency do not respond to this type of treatment. The creatine deficiency syndromes are underdiagnosed, so their possibility should be considered in all children affected by unexplained mental retardation, seizures and speech delay.

Keywords

EN

creatine deficiency; creatine-monohydrate; guanidinoacetate

• Publisher: Polish Biochemical Society
• Journal: Acta Biochimica Polonica
• Year: 2004
• Volume: 51
• Issue: 4
• Pages: 875-882

Dates

published

2004

received

2004-05-31

revised

2004-09-21

accepted

2004-10-26

Contributors

author

Jolanta Sykut-Cegielska

• Division of Metabolic Diseases, Department of Pedatrics, Children's Memorial Health Institute, Warsaw, Poland

author

Wanda Gradowska

• Division of Metabolic Diseases, Department of Pedatrics, Children's Memorial Health Institute, Warsaw, Poland

author

Saadet Mercimek-Mahmutoglu

• Department of Pediatrics, and National Newborn Screening Laboratory, University Hospital and General Hospital of Vienna, Vienna, Austria

author

Sylvia Stöckler-Ipsiroglu

• Department of Pediatrics, and National Newborn Screening Laboratory, University Hospital and General Hospital of Vienna, Vienna, Austria

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