AGAT Deficiency

Common Name(s)

AGAT Deficiency

Cerebral creatine deficiency syndrome-3 is an autosomal recessive disorder characterized by developmental delay/regression, mental retardation, severe disturbance of expressive and cognitive speech, and severe depletion of creatine/phosphocreatine in the brain ({9:Schulze, 2003}). Most patients develop a myopathy characterized by muscle weakness and atrophy later in life. Oral creatine supplementation can offer symptom improvement (summary by {5:Edvardson et al., 2010}). For a general phenotypic description and a discussion of genetic heterogeneity of cerebral creatine deficiency syndrome, see CCDS1 ({300352}).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "AGAT Deficiency" for support, advocacy or research.

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Association for Creatine Deficiencies

The Association for Creatine Deficiencies is committed to providing patient, family and public education to advocate for early intervention through newborn screening, and to promote and fund medical research for treatments and cures for Creatine Deficiency Syndromes.

Last Updated: 12 Feb 2016

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "AGAT Deficiency" for support, advocacy or research.

Logo
Association for Creatine Deficiencies

The Association for Creatine Deficiencies is committed to providing patient, family and public education to advocate for early intervention through newborn screening, and to promote and fund medical research for treatments and cures for Creatine Deficiency Syndromes.

http://creatineinfo.org

Last Updated: 12 Feb 2016

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "AGAT Deficiency" returned 1 free, full-text research articles on human participants. First 3 results:

Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide.
 

Author(s): Sylvia Stockler-Ipsiroglu, Delia Apatean, Roberta Battini, Suzanne DeBrosse, Kimberley Dessoffy, Simon Edvardson, Florian Eichler, Katherine Johnston, David M Koeller, Sonia Nouioua, Meriem Tazir, Ashok Verma, Monica D Dowling, Klaas J Wierenga, Andrea M Wierenga, Victor Zhang, Lee-Jun C Wong

Journal: Mol. Genet. Metab.. 2015 Dec;116(4):252-9.

 

Arginine:glycine aminotransferase (AGAT) (GATM) deficiency is an autosomal recessive inborn error of creative synthesis.

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "AGAT Deficiency" returned 1 free, full-text review articles on human participants. First 3 results:

AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: a review.
 

Author(s): O Braissant, H Henry

Journal: J. Inherit. Metab. Dis.. 2008 Apr;31(2):230-9.

 

Creatine deficiency syndromes, either due to AGAT, GAMT or SLC6A8 deficiencies, lead to a complete absence, or a very strong decrease, of creatine within the brain, as measured by magnetic resonance spectroscopy. While the mammalian central nervous system (CNS) expresses AGAT, GAMT ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.