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| GAMT deficiency ： ウィキペディア英語版 |
Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency, also called GAMT deficiency, is an autosomal recessive metabolic disorder that primarily affects the nervous system and muscles. It is the first observed disorder of creatine metabolism.
==Presentation==
This disorder usually appears in the first few months of life, when development of new motor and cognitive skills becomes delayed or stops. Eventually, affected children may lose previously acquired skills such as head control or the ability to sit unsupported.
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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