Living with Glutaric aciduria, type 1
An inherited condition in which the body can't process certain proteins, which can harm the movement-control areas of the brain.
Understanding Glutaric aciduria, type 1
It is an organic acid disorder. Low levels of an enzyme mean amino acids and their breakdown products build up and can damage parts of the brain that control movement. Severity varies widely, from mild to severe. Signs usually start in infancy or early childhood, but in a few people not until the teen years or adulthood. Illness, fever, or other stress can make symptoms worse.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Larger than usual head size (macrocephaly)
- Trouble moving, with spasms or rigidity
- Dystonia (involuntary muscle tensing)
- Feeding and swallowing difficulties
- Headache
- Low or changing muscle tone
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 GCDH 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 Organic Acidemia Association
- 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 GCDH gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: ga i; ga i - glutaric aciduria type 1; ga1; gcdh-gene related glutaryl-coenzyme a dehydrogenase deficiency; gcdhd; glutaric acidemia type 1
Patient organizations
- Organic Acidemia AssociationGlutaric aciduria, type 1 · United States
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