Novel guanidinoacetate methyltransferase (GAMT) mutation associated with cerebral creatine deficiency syndrome in a Syrian child: a case report
Sign Up to like & getrecommendations! Published in 2023 at "Annals of Medicine and Surgery"
DOI: 10.1097/ms9.0000000000000385
Abstract: Introduction: Guanidinoacetate methyltransferase (GAMT) deficiency, also known as cerebral creatine deficiency syndrome type 2 (CCDS2), is an uncommon disease caused by an innate genetic defect in the metabolic pathway of creatine inherited in an autosomal… read more here.
Keywords: creatine; gamt; methyltransferase gamt; case ... See more keywords
Age-Dependent Decline in Cardiac Function in Guanidinoacetate-N-Methyltransferase Knockout Mice
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DOI: 10.3389/fphys.2019.01535
Abstract: Aim Guanidinoacetate N-methyltransferase (GAMT) is the second essential enzyme in creatine (Cr) biosynthesis. Short-term Cr deficiency is metabolically well tolerated as GAMT–/– mice exhibit normal exercise capacity and response to ischemic heart failure. However, we… read more here.
Keywords: guanidinoacetate; cardiac function; guanidinoacetate methyltransferase; mice ... See more keywords
Guanidinoacetate Methyltransferase Deficiency: A Treatable Cause of Developmental Delay Diagnosed by Magnetic Resonance Spectroscopy
Sign Up to like & getrecommendations! Published in 2022 at "Annals of Indian Academy of Neurology"
DOI: 10.4103/aian.aian_597_22
Abstract: RefeRences 1. Kim JS, Yoon B, Choi KD, Oh SY, Park SH, Kim BK. Upbeat nystagmus: clinicoanatomical correlations in 15 patients. J Clin Neurol 2006;2:58‐65. 2. Daroff RB, Troost BT. Upbeat Nystagmus. JAMA 1973;225:312. 3.… read more here.
Keywords: upbeat nystagmus; neurology; deficiency treatable; spectroscopy ... See more keywords