The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of the fontanelles or cranial sutures||90%|
|Nausea and vomiting||90%|
|Abnormal facial shape||50%|
|Abnormal joint morphology||50%|
|Abnormality of extrapyramidal motor function||50%|
|Feeding difficulties in infancy||50%|
|Abnormality of eye movement||7.5%|
|Abnormality of the retinal vasculature||7.5%|
|Neurological speech impairment||7.5%|
|Autosomal recessive inheritance||-|
|Dilation of lateral ventricles||-|
|Failure to thrive||-|
|Symmetrical progressive peripheral demyelination||-|
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
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My granddaughter suffers from GA1. She is now 12. She is having a lot of breathing issues and lately has had to stay on bipap more frequently. What is the life expectancy for these children? I remember when she was diagnosed as an infant that they said most children don't live past early teens. Her dystonia is also getting worse. See answer
I know that a large head can be a trait of this. I have also heard that a lot of the kids have a higher IQ. Are there any other traits? Is there anything about strong stomach acid or high acidity? See answer
My husband is a carrier of glutamic acidemia type I. I am not a carrier. Are our children at risk to develop this condition? Are all individuals with glutaric acidemia identified in infancy? Where can I access genetic testing for glutaminc acidemia type I? See answer