Guanidinoacetate methyltransferase deficiency

Jump to: navigation, search
Guanidinoacetate methyltransferase deficiency
Glycocyamine.png
Glycocyamine
OMIM 601240
DiseasesDB 5461

WikiDoc Resources for Guanidinoacetate methyltransferase deficiency

Articles

Most recent articles on Guanidinoacetate methyltransferase deficiency

Most cited articles on Guanidinoacetate methyltransferase deficiency

Review articles on Guanidinoacetate methyltransferase deficiency

Articles on Guanidinoacetate methyltransferase deficiency in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Guanidinoacetate methyltransferase deficiency

Images of Guanidinoacetate methyltransferase deficiency

Photos of Guanidinoacetate methyltransferase deficiency

Podcasts & MP3s on Guanidinoacetate methyltransferase deficiency

Videos on Guanidinoacetate methyltransferase deficiency

Evidence Based Medicine

Cochrane Collaboration on Guanidinoacetate methyltransferase deficiency

Bandolier on Guanidinoacetate methyltransferase deficiency

TRIP on Guanidinoacetate methyltransferase deficiency

Clinical Trials

Ongoing Trials on Guanidinoacetate methyltransferase deficiency at Clinical Trials.gov

Trial results on Guanidinoacetate methyltransferase deficiency

Clinical Trials on Guanidinoacetate methyltransferase deficiency at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Guanidinoacetate methyltransferase deficiency

NICE Guidance on Guanidinoacetate methyltransferase deficiency

NHS PRODIGY Guidance

FDA on Guanidinoacetate methyltransferase deficiency

CDC on Guanidinoacetate methyltransferase deficiency

Books

Books on Guanidinoacetate methyltransferase deficiency

News

Guanidinoacetate methyltransferase deficiency in the news

Be alerted to news on Guanidinoacetate methyltransferase deficiency

News trends on Guanidinoacetate methyltransferase deficiency

Commentary

Blogs on Guanidinoacetate methyltransferase deficiency

Definitions

Definitions of Guanidinoacetate methyltransferase deficiency

Patient Resources / Community

Patient resources on Guanidinoacetate methyltransferase deficiency

Discussion groups on Guanidinoacetate methyltransferase deficiency

Patient Handouts on Guanidinoacetate methyltransferase deficiency

Directions to Hospitals Treating Guanidinoacetate methyltransferase deficiency

Risk calculators and risk factors for Guanidinoacetate methyltransferase deficiency

Healthcare Provider Resources

Symptoms of Guanidinoacetate methyltransferase deficiency

Causes & Risk Factors for Guanidinoacetate methyltransferase deficiency

Diagnostic studies for Guanidinoacetate methyltransferase deficiency

Treatment of Guanidinoacetate methyltransferase deficiency

Continuing Medical Education (CME)

CME Programs on Guanidinoacetate methyltransferase deficiency

International

Guanidinoacetate methyltransferase deficiency en Espanol

Guanidinoacetate methyltransferase deficiency en Francais

Business

Guanidinoacetate methyltransferase deficiency in the Marketplace

Patents on Guanidinoacetate methyltransferase deficiency

Experimental / Informatics

List of terms related to Guanidinoacetate methyltransferase deficiency


Guanidinoacetate methyltransferase deficiency, also called GAMT deficiency, is an autosomal recessive[1] metabolic disorder that primarily affects the nervous system and muscles. It is the first observed disorder of creatine metabolism.[2]

Presentation

This disorder usually appears in the first few months of life, when development of new motor and cognitive skills becomes delayed or stops. Eventually, affected children may lose previously acquired skills such as head control or the ability to sit unsupported.

Diagnosis

People with guanidinoacetate methyltransferase deficiency have a wide spectrum of neurological symptoms. In addition to mental retardation and muscle weakness, some children with this disorder experience seizures. They may also develop autistic behaviors that affect communication and social interaction. Some affected children exhibit certain involuntary movements such as tremors or facial tics.

Guanidinoacetate methyltransferase deficiency is a very rare disorder. Only a few dozen affected individuals have been reported worldwide. Of these, approximately one third are of Portuguese origin.

Pathophysiology

Guanidinoacetate methyltransferase deficiency has an autosomal recessive pattern of inheritance.

Mutations in the GAMT gene are associated with guanidinoacetate methyltransferase deficiency. This gene codes for the enzyme guanidinoacetate methyltransferase, which participates in the two-step synthesis of the compound creatine from amino acids glycine, arginine and methionine. Specifically, guanidinoacetate methyltransferase controls the second step of the sequence, in which creatine is produced from another compound called guanidinoacetate.

GAMT gene mutations impair the ability of the guanidinoacetate methyltransferase enzyme to participate in creatine synthesis. Creatine is needed for many tissues in the body to be able to store and use energy properly. The effects of guanidinoacetate methyltransferase deficiency are most severe in organs and tissues that require large amounts of energy, such as the brain and muscles.

This disorder is inherited in an autosomal recessive pattern, which means the defective gene is located on an autosome, and two copies of the gene - one from each parent - are required to inherit the disorder. The parents both carry one copy of the defective gene, but are usually not affected by the disorder.

See also

External links

References

  1. Schulze, A (2003). "Creatine deficiency syndromes". Molecular and cellular biochemistry. 244 (1-2): 143–50. ISSN 0300-8177. PMID 12701824. 
  2. Stöckler, S; Isbrandt, D; Hanefeld, F; Schmidt, B; Von, Figura, K (1996). "Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man" (Free full text). American journal of human genetics. 58 (5): 914–22. ISSN 0002-9297. PMC 1914613Freely accessible. PMID 8651275. 



Linked-in.jpg