Guanidinoacetate methyltransferase deficiency: differences of creatine uptake in human brain and muscle.
Mol Genet Metab
; 82(3): 208-13, 2004 Jul.
Article
in En
| MEDLINE
| ID: mdl-15234333
ABSTRACT
Deficiency of guanidinoacetate methyltransferase (GAMT), the first described creatine biosynthesis defect, leads to depletion of creatine and phosphocreatine, and accumulation of guanidinoacetate in brain. This results in epilepsy, mental retardation, and extrapyramidal movement disorders. Investigation of skeletal muscle by proton and phosphorus magnetic resonance spectroscopy before therapy demonstrated the presence of considerable amounts of creatine and phosphocreatine, and accumulation of phosphorylated guanidinoacetate in a 7-year-old boy diagnosed with GAMT deficiency, suggesting separate mechanisms for creatine uptake and synthesis in brain and skeletal muscle. The combination of creatine supplementation and a guanidinoacetate-lowering therapeutic approach resulted in improvement of clinical symptoms and metabolite concentrations in brain, muscle, and body fluids.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Brain
/
Muscle, Skeletal
/
Creatine
/
Glycine
/
Methyltransferases
Limits:
Child
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
En
Journal:
Mol Genet Metab
Journal subject:
BIOLOGIA MOLECULAR
/
BIOQUIMICA
/
METABOLISMO
Year:
2004
Document type:
Article
Affiliation country:
Germany
Country of publication:
EEUU
/
ESTADOS UNIDOS
/
ESTADOS UNIDOS DA AMERICA
/
EUA
/
UNITED STATES
/
UNITED STATES OF AMERICA
/
US
/
USA