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|
High blood ammonia levels
|30%-79% of people have these symptoms|
Low number of red blood cells or hemoglobin
Lack of feeling, emotion, interest
|Elevated hepatic transaminase||
High liver enzymes
High blood uric acid level
|Increased serum lactate||0002151|
|Lipid accumulation in hepatocytes||0006561|
Low or weak muscle tone
|Prolonged prothrombin time||0008151|
Recurrent low blood sugar levels
Increased respiratory rate or depth of breathing
|5%-29% of people have these symptoms|
Water retention[ more ]
Tiredness[ more ]
Decreased reflex response
Decreased reflexes[ more ]
Low blood pressure
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation[ more ]
|Intellectual disability, moderate||
IQ between 34 and 49
|Intellectual disability, severe||
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation[ more ]
Yellowing of the skin[ more ]
Elevated white blood count
High white blood count
Increased blood leukocyte number[ more ]
Decreased blood leukocyte number
Low white blood cell count[ more ]
Increased number of platelets in blood
|1%-4% of people have these symptoms|
Acute pancreatic inflammation
Heart stops beating
Stretched and thinned heart muscle
Difficulty articulating speech
Coma caused by low blood sugar
Abnormally low body temperature
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of the cerebral white matter||0002500|
|Death in childhood||0003819|
|Decreased plasma carnitine||0003234|
|Decreased prothrombin time||0032198|
|Excessive daytime somnolence||
Excessive daytime sleepiness
More than typical sleepiness during day[ more ]
Low blood sugar
|Increased level of 3-hydroxy-3-methylglutaric acid in urine||0410051|
|Increased level of hippuric acid in urine||0410066|
Involuntary muscle stiffness, contraction, or spasm
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.
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 sepsis, fatty acid oxidation disorders, organic acidurias and Reye's syndrome.
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.
Rare Disease Day at NIH 2021
March 1, 2021
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 daughter has been diagnosed with this condition. I have low platelet and white blood cell counts and have been told my marrow does not properly store iron. Is it possible that I have the condition also, and may not be just a carrier? See answer
Are there any active protocols researching this disorder? We would like to make a donation for research. See answer