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.

Other names

Creatine deficiency syndrome due to GAMT deficiency; Deficiency of guanidinoacetate methyltransferase; GAMT deficiency

Inheritance pattern

Autosomal recessive

Related genes

GAMT

Source: MedlinePlus Genetics, U.S. National Library of Medicine.