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|
|Elevated alkaline phosphatase||
Greatly elevated alkaline phosphatase
High serum alkaline phosphatase
Increased alkaline phosphatase
Increased serum alkaline phosphatase
|Elevated hepatic transaminases||0002910|
|Fatal liver failure in infancy||0006583|
Enlarged liver and spleen
Elevated serum cholesterol
Elevated total cholesterol
Increased total cholesterol
Increased plasma triglycerides
Increased serum triglycerides
Yellowing of the skin
|Microvesicular hepatic steatosis||0001414|
|30%-79% of people have these symptoms|
Fatty deposits in skin around the eyes
Fatty deposits on eyelids
|5%-29% of people have these symptoms|
|Abnormal urine potassium concentration||0012598|
|Failure to thrive||
Elevated serum potassium levels
Low blood sodium levels
Low blood pressure
Depleted blood volume
|Primary adrenal insufficiency||0008207|
|Renal salt wasting||0000127|
|Percent of people who have these symptoms is not available through HPO|
|Death in infancy||
Lethal in infancy
Fatty infiltration of liver
Increased spleen size
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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.
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Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
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.
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.
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.