Living with Deficiency of guanidinoacetate methyltransferase
An inherited condition affecting the brain and muscles, with learning, speech, and seizure problems if not treated early.
Understanding Deficiency of guanidinoacetate methyltransferase
Without early treatment, neurological problems are usually severe. They include intellectual disability, speech limited to a few words, and seizures. People may also have autistic behaviors, self-injury such as head-banging, involuntary movements, and weak muscle tone. In severe cases people may lose skills they had learned.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe intellectual disability
- Seizures
- Limited speech
- Involuntary movements
- Behavior differences
- Severe global developmental delay
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in GAMT are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
United Mitochondrial Disease Foundation, MitoAction and Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: United Mitochondrial Disease Foundation, MitoAction, Epilepsy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with United Mitochondrial Disease Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the GAMT gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: ccds2; cerebral creatine deficiency syndrome 2; cerebral creatine deficiency syndrome type 2; disorder of guanidinoacetate n-methyltransferase activity; gamt deficiency; guanidinoacetate methyltransferase deficiency
Patient organizations
- United Mitochondrial Disease FoundationDeficiency of guanidinoacetate methyltransferase · United States
- Association for Creatine DeficienciesDeficiency of guanidinoacetate methyltransferase · United States
- MitoActionDeficiency of guanidinoacetate methyltransferase · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Deficiency of guanidinoacetate methyltransferase.
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