Living with Arginine:glycine amidinotransferase deficiency
An inherited condition that mainly affects the brain, causing delayed speech, intellectual disability, and weak muscle tone.
Understanding Arginine:glycine amidinotransferase deficiency
People have mild to moderate intellectual disability and delayed speech. Some have autistic behaviors that affect communication and social interaction, and seizures, especially with fever. Children may not gain weight or grow as expected, may be slow to sit and walk, and may have weak muscle tone and tire easily. It is noticed in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Delayed speech and language
- Delayed development
- Muscle weakness
- Muscle disease (myopathy)
- Seizures, especially with fever
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 GATM 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
GARD says changes in the GATM gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: agat deficiency; ccds3; cerebral creatine deficiency syndrome 3; cerebral creatine deficiency syndrome type 3; creatine deficiency syndrome due to agat deficiency; creatine deficiency syndrome due to arginine:glycine amidinotransferase deficiency
Patient organizations
- United Mitochondrial Disease FoundationArginine:glycine amidinotransferase deficiency · United States
- Association for Creatine DeficienciesArginine:glycine amidinotransferase deficiency · United States
- MitoActionArginine:glycine amidinotransferase deficiency · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Arginine:glycine amidinotransferase deficiency.
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