AGAT deficiency

AGAT deficiency is a very rare condition that is part of a group of disorders known as creatine deficiency syndromes. Creatine is important for energy production in the body, and this condition affects how the body produces creatine. People with this condition may experience global developmental delay, intellectual disability, and myopathy. This means that there can be challenges with overall development, learning, and muscle strength.

Common signs of AGAT deficiency include global developmental delay, intellectual disability, and myopathy. These symptoms reflect challenges with muscle strength and cognitive development.

AGAT deficiency is linked to changes in the gene known as GATM. This gene provides instructions for making an enzyme important for creatine production. Alterations in this gene affect how creatine is made in the body.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.