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 | ||
Decreased circulating |
0004313 | |
Elevated alkaline phosphatase |
Greatly elevated alkaline phosphatase
High serum alkaline phosphatase
Increased alkaline phosphatase
Increased serum alkaline phosphatase
[ more ]
|
0003155 |
Elevated |
0006254 | |
Elevated gamma-glutamyltransferase level | 0030948 | |
Elevated plasma citrulline | 0011966 | |
Hyperbilirubinemia |
High blood bilirubin levels
|
0002904 |
Hypergalactosemia | 0012024 | |
Hypertriglyceridemia |
Increased plasma triglycerides
Increased serum triglycerides
Increased triglycerides
[ more ]
|
0002155 |
Hypoalbuminemia |
Low blood albumin
|
0003073 |
Increased lactate dehydrogenase level | 0025435 | |
Yellow skin
Yellowing of the skin
[ more ]
|
0000952 | |
Lactic acidosis |
Increased lactate in body
|
0003128 |
Prolonged prothrombin time | 0008151 | |
30%-79% of people have these symptoms | ||
Abnormal circulating alanine concentration | 0010916 | |
Abnormal circulating arginine concentration | 0010909 | |
Abnormal circulating glutamine concentration | 0010903 | |
Diarrhea |
Watery stool
|
0002014 |
Elevated hepatic transaminase |
High liver enzymes
|
0002910 |
Failure to thrive in infancy |
Faltering weight in infancy
Weight faltering in infancy
[ more ]
|
0001531 |
Hepatic steatosis |
Fatty infiltration of liver
Fatty liver
[ more ]
|
0001397 |
Hepatomegaly |
Enlarged liver
|
0002240 |
Enlarged liver and spleen
|
0001433 | |
Hyperammonemia |
High blood ammonia levels
|
0001987 |
Hyperlysinemia |
Elevated blood lysine
|
0002161 |
Hypertyrosinemia |
Increased tyrosine in blood
|
0003231 |
5%-29% of people have these symptoms | ||
Abnormal circulating serine concentration | 0012278 | |
Low number of red blood cells or hemoglobin
|
0001903 | |
Decreased HDL cholesterol concentration |
Decreased circulating high-density lipoprotein cholesterol
Decreased HDL cholesterol
Low HDL-cholesterol
[ more ]
|
0003233 |
Gastrointestinal hemorrhage |
Gastrointestinal bleeding
|
0002239 |
Hypercholesterolemia |
Elevated serum cholesterol
Elevated total cholesterol
Increased total cholesterol
[ more ]
|
0003124 |
Hypermethioninemia |
Increased methionine in blood
|
0003235 |
Hyperthreoninemia |
High blood threonine levels
|
0003354 |
Increased LDL cholesterol concentration |
Increased circulating LDL level
Increased LDL cholesterol
[ more ]
|
0003141 |
Increased urinary glycerol | 0040301 | |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
|
0001511 |
Ketonuria | 0002919 | |
Poor appetite |
Decreased appetite
|
0004396 |
1%-4% of people have these symptoms | ||
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
Percent of people who have these symptoms is not available through HPO | ||
0000007 | ||
Cirrhosis |
Scar tissue replaces healthy tissue in the liver
|
0001394 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
Growth delay |
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ]
|
0001510 |
Intrahepatic cholestasis | 0001406 |
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.
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.
The Urea Cycle Disorders Consortium is a team of doctors, nurses, research coordinators, and research labs throughout the US, working together to improve the lives of people with Urea Cycle Disorders. The Urea Cycle Disorders Consortium maintains a registry for patients who wish to be contacted about clinical research opportunities.
For more information on the registry see: http://rarediseasesnetwork.epi.usf.edu/ucdc/takeaction/index.htm
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
Why is adult onset citrullinemia type ll so common in Japan? What is the prognosis for this type of citrullinemia? Where can I find graphical data on the prevalence of citrullinemia worldwide? See answer