Recombinant Human Guanidinoacetate N-methyltransferase (GAMT)

1. Measurements of creatine and guanidinoacetate in plasma are recommended for the diagnosis of AGAT and GAMT deficiency.Definitive confirmation of the diagnosis requires DNA sequencing of the appropriate gene and (if molecular analysis is ambiguous) measurement of AGAT or GAMT enzyme activity or of CRTR-mediated transport PMID: 28055022
2. Data suggest that creatine is provided equally by diet and by endogenous synthesis from arginine and glycine with successive involvement of arginine glycine amidinotransferase [AGAT] and guanidinoacetate methyl transferase [GAMT]. [REVIEW] PMID: 26542286
3. As early diagnosis results in normal neurodevelopmental outcome, GAMT deficiency should be included in newborn screening programs to diagnose individuals at the asymptomatic stage of the disease PMID: 26003046
4. The estimated incidence of GAMT deficiency is 1:250,000 newborns based on our pilot study. PMID: 26319512
5. Study reports six novel pathogenic mutations in GAMT gene in patients with Guanidinoacetate methyltransferase deficiency. PMID: 24415674
6. Two novel heterozygous variants with sequence deletion and sequence insertion in the GAMT gene have been identified in newborns with guanidinoacetate methyltransferase deficiency. PMID: 23031365
7. impact of creatine deficiency syndrome mutations, CRTR and GAMT on metabolic stress was analyzed in patient fibroblast cultures PMID: 21140503
8. GAMT genes may not be directly involved in human male infertility PMID: 21190923
9. Mutations in the GAMT gene are responsible for GAMT deficiency, since overexpression of the GAMT open reading frame restores GAMT activity in GAMT-deficient fibroblasts. PMID: 16899382
10. compound heterozygous mutations in the GAMT gene may be causitive in guanidinoacetate methyltransferase deficiency masquerading as a mitochondrial encephalopathy [case report] PMID: 17171576
11. the carrier rate of the c.59G>C; p.Trp20Ser mutation in GAMT is relatively high in these islands, as well as in other parts of Portugal. PMID: 17336114
12. Five novel mutations were identified in GAMT from 8 patients with GAMT deficiency. PMID: 19027335
13. Body fluids from 10 GAMT deficient patients were analysed using (1)H NMR spectroscopy. PMID: 19288536

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HGNC: 4136

OMIM: 601240

KEGG: hsa:2593

STRING: 9606.ENSP00000403536

UniGene: Hs.81131