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 | ||
| Fever | 0001945 | |
| Hyperuricemia |
High blood uric acid level
|
0002149 |
| Ketonuria | 0002919 | |
| Metabolic acidosis | 0001942 | |
| Tachypnea |
Increased respiratory rate or depth of breathing
|
0002789 |
| Vomiting |
Throwing up
|
0002013 |
| 30%-79% of people have these symptoms | ||
| Apathy |
Lack of feeling, emotion, interest
|
0000741 |
| Coma | 0001259 | |
| Cough |
Coughing
|
0012735 |
| Dehydration | 0001944 | |
| Diarrhea |
Watery stool
|
0002014 |
| Excessive daytime somnolence |
More than typical sleepiness during day
|
0001262 |
| Hyperammonemia |
High blood ammonia levels
|
0001987 |
| Ketoacidosis | 0001993 | |
| Leukocytosis |
Elevated white blood count
High white blood count
Increased blood leukocyte number
[ more ]
|
0001974 |
| Thrombocytosis |
Increased number of platelets in blood
|
0001894 |
| 5%-29% of people have these symptoms | ||
| Abnormal metabolic brain |
0012705 | |
| Agitation | 0000713 | |
| Anorexia | 0002039 | |
| 0001251 | ||
| Body odor | 0500001 | |
| Edema |
Fluid retention
Water retention
[ more ]
|
0000969 |
| Extrapyramidal dyskinesia | 0007308 | |
| Hepatomegaly |
Enlarged liver
|
0002240 |
| Hyperglycemia |
High blood sugar
|
0003074 |
| 0000822 | ||
|
Low blood sugar
|
0001943 | |
| Hyporeflexia |
Decreased reflex response
Decreased reflexes
[ more ]
|
0001265 |
| Hypotension |
Low blood pressure
|
0002615 |
| Increased serum lactate | 0002151 | |
| Motor delay | 0001270 | |
| Muscular |
Low or weak muscle tone
|
0001252 |
| Oral aversion | 0012523 | |
| Pallor | 0000980 | |
|
Seizure
|
0001250 | |
|
Involuntary muscle stiffness, contraction, or spasm
|
0001257 | |
| Weight loss | 0001824 | |
| 1%-4% of people have these symptoms | ||
|
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ]
|
0001256 | |
| Intellectual disability, severe |
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ]
|
0010864 |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000007 | ||
| Episodic ketoacidosis | 0005974 | |
| Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 |
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.
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
|
|---|
|
The differential diagnosis includes sepsis, other organic acidurias such as HSD10 disease and succinyl-CoA:3-ketoacid CoA transferase deficiency (see these terms), other conditions that cause ketoacidosis in childhood, and glycogen storage disease due to glycogen synthase deficiency (see this term).
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
A young family has a 3 year old girl with this disease. The parents would like to have additional children but are afraid to have another affected baby. What are their options? See answer
