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|
Low blood sugar when fasting
High blood uric acid level
|Intermittent lactic acidemia||0004913|
|5%-29% of people have these symptoms|
|Apneic episodes in infancy||0005949|
|Elevated hepatic transaminase||
High liver enzymes
|Excessive daytime somnolence||
Excessive daytime sleepiness
More than typical sleepiness during day[ more ]
Fatty infiltration of liver
Fatty liver[ more ]
|Increased urinary glycerol||0040301|
Mental retardation, nonspecific
Mental-retardation[ more ]
High levels of ketone bodies
Low or weak muscle tone
Low blood sugar in newborn
Difficulty breathing[ more ]
Fast heart rate
Racing heart[ more ]
|1%-4% of people have these symptoms|
Increased blood alanine
Increased serum alanine[ more ]
|Percent of people who have these symptoms is not available through HPO|
Decreased muscle tone
Low muscle tone[ more ]
Low blood sugar
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
Differential diagnosis includes glycogen storage disease due to glucose-6-phosphatase deficiency (see this term).
Visit the Orphanet disease page for more information.
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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