This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|30%-79% of people have these symptoms|
|Abnormal putamen morphology||0031982|
Involuntary writhing movements in fingers, hands, toes, and feet
Difficulty articulating speech
Swallowing difficulty[ more ]
Poor feeding[ more ]
|Poor motor coordination||0002275|
Progressively abnormally enlarging cranium
Progressively abnormally enlarging skull[ more ]
|T2 hypointense basal ganglia||0012753|
|Widened subarachnoid space||0012704|
|5%-29% of people have these symptoms|
|Abnormality of the cerebral white matter||0002500|
|Abnormality of the respiratory system||0002086|
Progressive dementia[ more ]
Loss of developmental milestones
Mental deterioration in childhood[ more ]
Decreased ability to exercise
Inability to exercise[ more ]
Low blood sugar when fasting
Recurrent joint dislocations[ more ]
|Loss of consciousness||
|Severe muscular hypotonia||
Severely decreased muscle tone
|1%-4% of people have these symptoms|
|Percent of people who have these symptoms is not available through HPO|
|Dilation of lateral ventricles||0006956|
|Failure to thrive||
Weight faltering[ more ]
Decreased muscle tone
Low muscle tone[ more ]
Increased level of ketone bodies in blood
Low blood sugar
Increased size of skull
Large head circumference[ more ]
Low or weak muscle tone
|Symmetrical progressive peripheral demyelination||0006873|
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.
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
GDD is often misdiagnosed. Differential diagnosis includes encephalitis, Reye's syndrome, familial infantile bilateral striatal necrosis, familial megalencephaly, postencephalitic Parkinsonism (see these terms), dystonic cerebral palsy, battered child syndrome with chronic subdural effusions, sudden infant death syndrome and vaccine induced brain-injury.
Visit the Orphanet disease page for more information.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
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