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 | Learn More: HPO ID |
---|---|---|
80%-99% of people have these symptoms | ||
Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
Global |
0001263 | |
Increased serum lactate | 0002151 | |
Lactic acidosis |
Increased lactate in body
|
0003128 |
Neurodevelopmental delay | 0012758 | |
Vomiting |
Throwing up
|
0002013 |
30%-79% of people have these symptoms | ||
Elevated hepatic transaminase |
High liver enzymes
|
0002910 |
Elevated plasma branched chain |
0008344 | |
Feeding difficulties |
Feeding problems
Poor feeding
[ more ]
|
0011968 |
Hepatic |
0002480 | |
Hepatomegaly |
Enlarged liver
|
0002240 |
Hypercoagulability | 0100724 | |
Low blood sugar
|
0001943 | |
Increased urine alpha-ketoglutarate concentration | 0012402 | |
Lethargy | 0001254 | |
Seizure | 0001250 | |
Spasticity |
Involuntary muscle stiffness, contraction, or spasm
|
0001257 |
5%-29% of people have these symptoms | ||
Abnormal cardiac ventricular function | 0030872 | |
Ataxia | 0001251 | |
Behavioral abnormality |
Behavioral changes
Behavioral disorders
Behavioral disturbances
Behavioral problems
Behavioral/psychiatric abnormalities
Behavioural/Psychiatric abnormality
Psychiatric disorders
Psychiatric disturbances
[ more ]
|
0000708 |
Cardiomyopathy |
Disease of the heart muscle
|
0001638 |
Decreased liver function |
Liver dysfunction
|
0001410 |
Decreased plasma carnitine | 0003234 | |
Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
Hepatic failure |
Liver failure
|
0001399 |
Hyperammonemia |
High blood ammonia levels
|
0001987 |
Hyperisoleucinemia |
High blood isoleucine concentration
|
0010913 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
Muscle spasm | 0003394 | |
Reduced visual acuity |
Decreased clarity of vision
|
0007663 |
Percent of people who have these symptoms is not available through HPO | ||
0000007 | ||
Dystonia | 0001332 | |
Encephalopathy | 0001298 | |
Hypertrophic cardiomyopathy |
Enlarged and thickened heart muscle
|
0001639 |
Metabolic acidosis | 0001942 | |
0003828 |
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.
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.