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Guanidinoacetate methyltransferase deficiency

Guanidinoacetate methyltransferase deficiency

Reviewed June 2015

What is guanidinoacetate methyltransferase deficiency?

Guanidinoacetate methyltransferase deficiency is an inherited disorder that primarily affects the brain and muscles. Without early treatment, people with this disorder have neurological problems that are usually severe. These problems include intellectual disability, speech development limited to a few words, and recurrent seizures (epilepsy). Affected individuals may also exhibit autistic behaviors that affect communication and social interaction or self-injurious behaviors such as head-banging. Other features of this disorder can include involuntary movements (extrapyramidal dysfunction) such as tremors or facial tics.

People with guanidinoacetate methyltransferase deficiency may have weak muscle tone and delayed development of motor skills such as sitting or walking. In severe cases they may lose previously acquired skills such as the ability to support their head or to sit unsupported.

How common is guanidinoacetate methyltransferase deficiency?

Guanidinoacetate methyltransferase deficiency is a very rare disorder. About 80 affected individuals have been described in the medical literature. Of these, approximately one-third are of Portuguese origin.

What genes are related to guanidinoacetate methyltransferase deficiency?

Mutations in the GAMT gene cause guanidinoacetate methyltransferase deficiency. The GAMT gene provides instructions for making the enzyme guanidinoacetate methyltransferase. This enzyme participates in the two-step production (synthesis) of the compound creatine from the protein building blocks (amino acids) glycine, arginine, and methionine. Specifically, guanidinoacetate methyltransferase controls the second step of this process. In this step, creatine is produced from another compound called guanidinoacetate. Creatine is needed for the body to store and use energy properly.

GAMT gene mutations impair the ability of the guanidinoacetate methyltransferase enzyme to participate in creatine synthesis, resulting in a shortage of creatine. The effects of guanidinoacetate methyltransferase deficiency are most severe in organs and tissues that require large amounts of energy, especially the brain.

Read more about the GAMT gene.

How do people inherit guanidinoacetate methyltransferase deficiency?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Where can I find information about diagnosis or management of guanidinoacetate methyltransferase deficiency?

These resources address the diagnosis or management of guanidinoacetate methyltransferase deficiency and may include treatment providers.

You might also find information on the diagnosis or management of guanidinoacetate methyltransferase deficiency in Educational resources and Patient support.

General information about the diagnosis and management of genetic conditions is available in the Handbook. Read more about genetic testing, particularly the difference between clinical tests and research tests.

To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.

Where can I find additional information about guanidinoacetate methyltransferase deficiency?

You may find the following resources about guanidinoacetate methyltransferase deficiency helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for guanidinoacetate methyltransferase deficiency?

  • creatine deficiency syndrome due to GAMT deficiency
  • deficiency of guanidinoacetate methyltransferase
  • GAMT deficiency

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines and How are genetic conditions and genes named? in the Handbook.

What if I still have specific questions about guanidinoacetate methyltransferase deficiency?

Where can I find general information about genetic conditions?

What glossary definitions help with understanding guanidinoacetate methyltransferase deficiency?

acids ; arginine ; autosomal ; autosomal recessive ; cell ; compound ; creatine ; deficiency ; disability ; enzyme ; epilepsy ; extrapyramidal ; gene ; glycine ; inherited ; involuntary ; methionine ; methyltransferase ; motor ; muscle tone ; neurological ; protein ; recessive ; syndrome ; synthesis

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (15 links)


The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

Reviewed: June 2015
Published: February 1, 2016