Biochemical and clinical characteristics of creatine deficiency syndromes

• Autorzy: Sykut-Cegielska J , Gradowska W. , Mercimek-Mahmutoglu S. , Stockler-Ipsiroglu S.
• Języki publikacji: EN

Abstrakty

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.

Słowa kluczowe

EN

creatine synthesis; creatine deficiency syndrome; guanidinoacetate; creatine deficiency; creatine monohydrate

• Wydawca: -
• Czasopismo: Acta Biochimica Polonica
• Rocznik: 2004
• Tom: 51
• Numer: 4
• Opis fizyczny: p.875-882,fig.,ref.

Twórcy

autor

Sykut-Cegielska J

• Children's Memorial Health Institute, Warsaw, Poland

autor

Gradowska W.

autor

Mercimek-Mahmutoglu S.

autor

Stockler-Ipsiroglu S.

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