Guanidinoacetate methyltransferase (GAMT) deficiency is an inherited disease that affects the brain and muscles. People with this disease may begin showing symptoms from early infancy …

Guanidinoacetate methyltransferase (GAMT) deficiency is an inherited (genetic) condition that prevents the body from making a substance called creatine. Creatine helps store and use …

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Guanidinoacetate methyltransferase deficiency (GAMT deficiency) is an autosomal recessive [1] cerebral creatine deficiency that primarily affects the nervous system and muscles.

2025年1月17日 · Guanidinoacetate methyltransferase deficiency (GAMT) is one of the three cerebral creatine deficiency syndromes (CCDS). These conditions are inborn errors of creatine …

2023年7月19日 · Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessive disorder of creatine biosynthesis due to pathogenic variants in the GAMT gene that …

The GAMT gene provides instructions for making the enzyme guanidinoacetate methyltransferase. This enzyme participates in the two-step production (synthesis) of the …

2024年12月25日 · GAMT (Guanidinoacetate N-Methyltransferase) is a Protein Coding gene. Diseases associated with GAMT include Cerebral Creatine Deficiency Syndrome 2 and …

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GAMT deficiency has not been shown to reduce an individual’s lifespan. The GAMT gene provides instructions for making the enzyme guanidinoacetate methyltransferase. This enzyme …