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 to age three.

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

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

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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 metabolism which interrupt the formation or transport of creatine.

The GAMT gene provides instructions for making the enzyme guanidinoacetate methyltransferase. This enzyme participates in the two-step production (synthesis) of the compound creatine from the protein building blocks ( amino acids ) …

How is GAMT deficiency treated? How are newborns screened for GAMT deficiency? Does early diagnosis or treatment help patients with GAMT deficiency? What is the public health impact of newborn GAMT deficiency screening in the US? Did the Committee recommend adding GAMT deficiency to the RUSP?

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 lead to cerebral creatine deficiency and neurotoxic levels of guanidinoacetate.

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 Cerebral Creatine Deficiency Syndrome. Among its related pathways are Gene expression (Transcription) and Creatine metabolism.

Guanidinoacetate N-methyltransferase (EC 2.1.1.2) is an enzyme that catalyzes the chemical reaction and is encoded by gene GAMT located on chromosome 19p13.3. [5] Thus, the two substrates of this enzyme are S-adenosyl methionine and guanidinoacetate, whereas its two products are S-adenosylhomocysteine and creatine.