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Arginine:glycine amidinotransferase deficiency

Arginine:glycine amidinotransferase deficiency

Reviewed December 2015

What is arginine:glycine amidinotransferase deficiency?

Arginine:glycine amidinotransferase deficiency is an inherited disorder that primarily affects the brain. People with this disorder have mild to moderate intellectual disability and delayed speech development. Some affected individuals develop autistic behaviors that affect communication and social interaction. They may experience seizures, especially when they have a fever.

Children with arginine:glycine amidinotransferase deficiency may not gain weight and grow at the expected rate (failure to thrive), and have delayed development of motor skills such as sitting and walking. Affected individuals may also have weak muscle tone and tend to tire easily.

How common is arginine:glycine amidinotransferase deficiency?

The prevalence of arginine:glycine amidinotransferase deficiency is unknown. The disorder has been identified in only a few families.

What genes are related to arginine:glycine amidinotransferase deficiency?

Mutations in the GATM gene cause arginine:glycine amidinotransferase deficiency. The GATM gene provides instructions for making the enzyme arginine:glycine amidinotransferase. 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, arginine:glycine amidinotransferase controls the first step of the process. In this step, a compound called guanidinoacetic acid is produced by transferring a cluster of nitrogen and hydrogen atoms called a guanidino group from arginine to glycine. Guanidinoacetic acid is converted to creatine in the second step of the process. Creatine is needed for the body to store and use energy properly.

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

Read more about the GATM gene.

How do people inherit arginine:glycine amidinotransferase 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 arginine:glycine amidinotransferase deficiency?

These resources address the diagnosis or management of arginine:glycine amidinotransferase deficiency and may include treatment providers.

You might also find information on the diagnosis or management of arginine:glycine amidinotransferase 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 arginine:glycine amidinotransferase deficiency?

You may find the following resources about arginine:glycine amidinotransferase 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 arginine:glycine amidinotransferase deficiency?

  • AGAT deficiency
  • cerebral creatine deficiency syndrome 3
  • creatine deficiency syndrome due to AGAT deficiency
  • GATM deficiency
  • l-arginine:glycine amidinotransferase deficiency
  • l-arginine:glycine aminidotransferase 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 arginine:glycine amidinotransferase deficiency?

Where can I find general information about genetic conditions?

What glossary definitions help with understanding arginine:glycine amidinotransferase deficiency?

acids ; arginine ; autosomal ; autosomal recessive ; cell ; compound ; creatine ; deficiency ; disability ; enzyme ; failure to thrive ; fever ; gene ; glycine ; inherited ; L-arginine ; methionine ; motor ; muscle tone ; prevalence ; 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 (10 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: December 2015
Published: February 8, 2016