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Coverage: 2020-01-01 onwards, with up to 300 results per query from PubMed and Europe PMC and separate limits on other sources. This is a selected index, not a complete literature search.
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Guanidinoacetate Methyltransferase Deficiency: Research Summary
Printed from RareWays (rareways.org)
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Creatine Supplementation Reduces Guanidinoacetate via Downregulation of AGAT in a Mouse Model of GAMT Deficiency.
Tkachyova Ilona et al., Journal of inherited metabolic disease (1 September 2026)
https://pubmed.ncbi.nlm.nih.gov/42532849/
- 2.
Guanidinoacetate methyltransferase deficiency presenting as epileptic encephalopathy: A clinical vignette.
Maddahi Baharak et al., Epileptic disorders : international epilepsy journal with videotape (1 April 2026)
https://pubmed.ncbi.nlm.nih.gov/41489599/
- 3.
Guanidinoacetate methyltransferase deficiency, a treatable cause of intellectual disability in late childhood
Asiyatun Nasrin Thondiyar Mohamed et al., Journal of Neurosciences in Rural Practice (24 January 2026)
https://doi.org/10.25259/jnrp_286_2025
- 4.
A CNS-Directed, AAV9 Gene Therapy Restores Expression and Biochemical Function of Guanidinoacetate Methyltransferase in Models of GAMT Deficiency.
Binsfeld Robyn et al., International journal of molecular sciences (20 January 2026)
https://pubmed.ncbi.nlm.nih.gov/41596680/
- 5.
GAMT Deficiency: Clinical Presentation, Treatment, Diagnosis, Animal Models, Preclinical and Clinical Developments.
Biagiotti Sara et al., International journal of molecular sciences (21 November 2025)
https://pubmed.ncbi.nlm.nih.gov/41373441/
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
Guanidinoacetate Methyltransferase Deficiency
Guanidinoacetate methyltransferase deficiency is a rare inherited disorder in which the body cannot make creatine properly, so the brain is left short of it while a related substance, guanidinoacetate, builds up. It can cause developmental delay, intellectual disability, seizures and movement problems. Management involves creatine supplements, a diet low in arginine or protein, and ornithine, with best results when started early.
This overview is general information, not an individual medical assessment. Research is selected automatically and may include mismatches. How we select and explain research.
Most Recent Research
The cornerstone of treatment in creatine synthesis defects is the supplementation of creatine (CT). The treatment leads to partial replenishment of creatine; it also leads to the reduction of guanidinoacetate (GAA). Considering the neurotoxic accumulation of GAA in patients with guanidinoacetate methyltransferase (GAMT) deficiency, understanding the process by which CT reduces GAA is crucial. Ten-week-old GAMT mice were fed with different diets, either CT-free or containing 2% and 4% CT for 10 weeks. Subsequent investigations included the analysis of CT and GAA in urine, blood, and mouse organs, and the analysis of AGAT expression in mouse organs by qPCR, western blotting, and enzymatic activity. CT supplementation in GAMT mutant mice led to a significant reduction of GAA in body fluids and organs, with the exception of the liver. The GAA-lowering effect of CT was mediated through downregulation of AGAT expression. The CT supplementation was sufficient to correct CT deficiency in all organs. Even in wild type mice, CT supplementation demonstrated a consistent reduction of GAA and increased the CT concentration in kidney and liver. CT supplementation in wild type mice did not change the CT concentration in brain, heart, and skeletal muscle. The liver exhibited a peculiar situation characterized by resistance to the GAA-lowering effects of CT. Our mouse study provides new insights in the effects of CT supplementation in wild type and GAMT deficient mice and the mechanism by which CT reduces the GAA accumulation in GAMT deficiency via downregulation of AGAT. This mechanism should be further explored for the treatment of GAMT deficiency.
Common Questions
What is Guanidinoacetate Methyltransferase Deficiency?
Guanidinoacetate methyltransferase deficiency is a rare inherited disorder in which the body cannot make creatine properly, so the brain is left short of it while a related substance, guanidinoacetate, builds up. It can cause developmental delay, intellectual disability, seizures and movement problems. Management involves creatine supplements, a diet low in arginine or protein, and ornithine, with best results when started early.
How many clinical trials are available for Guanidinoacetate Methyltransferase Deficiency?
No clinical trials are currently indexed for Guanidinoacetate Methyltransferase Deficiency. This may change as new trials are registered. Check back regularly or visit ClinicalTrials.gov directly.
Where does the research data for Guanidinoacetate Methyltransferase Deficiency come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is refreshed automatically every day. All articles and trials link directly to their original sources.
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