Living with Congenital brain dysgenesis due to glutamine synthetase deficiency
A rare metabolic brain condition in newborns with severe seizures, brain differences, low muscle tone and skin changes.
Understanding Congenital brain dysgenesis due to glutamine synthetase deficiency
Newborns have severe seizures with brain differences, such as shrinking of brain tissue and a thin corpus callosum. They have low muscle tone and little typical development. Facial differences and a skin rash (necrolytic erythema) can also occur. Tests show low glutamine and long-lasting high ammonia.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures
- Severe global developmental delay
- Low muscle tone (hypotonia)
- Brain shrinking (atrophy)
- Breathing trouble in newborns
- Skin redness (erythema)
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 and genetic specialists.
- 3Consider genetic testing
Changes in GLUL are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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 GLUL gene are listed. It is autosomal recessive, so a child inherits a changed copy from each parent.
Also known as: glnd; glutamine synthase deficiency, congenital systemic; inherited glutamine synthetase deficiency; inherited gs deficiency
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital brain dysgenesis due to glutamine synthetase deficiency.
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