A novel variation of gamt in cerebral creatine deficiency syndrome, first complete homozygous deletion of GAMT

Guanidinoacetate methyltransferase (GAMT) deficiency

Keywords Disease name and synonyms Excluded diseases Diagnostic criteria / definition Prevalence Clinical description Management including treatment Etiology Diagnostic methods Genetic counseling / Prenatal diagnosis Unresolved Problems References Abstract Guanidinoacetate methyltransferase (GAMT, EC 2.1.1.2) deficiency is a newly recognized inborn error of creatine synthesis. The clinical phen...

Creatine metabolism and disease Primary creatine metabolism disorders- Cerebral Creatine Deficiency Syndromes Cerebral Creatine Deficiency Syndromes (CCDS) are a group of disorders consisting of defects in proteins involved in creatine biosynthesis, AGAT and GAMT, and in its transporter, SLC6A8

Guanidinoacetate methyltransferase (GAMT) deficiency: a rare but treatable epilepsy.

Epilepsy commonly presents in childhood as part of a syndrome, and some such children may reach adult services without an underlying syndromic diagnosis. For adult neurologists taking over their care, it is often unclear how hard to search for an underlying diagnosis. The diagnostic yield may be small and such a diagnosis may not change management. Young adults with learning difficulties are al...

Is ATP elevated in patients with GAMT deficiency?

We read with interest the paper by Bianchi et al, in which the authors report on the treatment monitoring of 2 patients with guanidinoacetate methyltransferase (GAMT) deficiency and 3 patients with an arginine:glycine amidinotransferase defect (AGAT-d). Repetitive MR measurements of these patients are not trivial, and some interesting observations are presented in this paper that may be very us...

Spatiotemporal expression of the creatine metabolism related genes agat, gamt and ct1 during zebrafish embryogenesis.

Glycine amidinotransferase (AGAT or GATM), guanidinoacetate methyltransferase (GAMT) and creatine transporter (CT1) are three proteins involved in the synthesis and uptake of creatine. The expression patterns of these three genes were examined in zebrafish embryos by whole mount in situ hybridization followed by histological sectioning. Expression of agat first appeared in the yolk syncytial la...