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 |
|---|---|---|
| Percent of people who have these symptoms is not available through HPO | ||
| 0000007 | ||
| Clonus | 0002169 | |
|
Symptoms present at birth
|
0003577 | |
| Generalized |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
| Global |
0001263 | |
| Hepatomegaly |
Enlarged liver
|
0002240 |
| Hyperalaninemia |
Increased blood alanine
Increased serum alanine
[ more ]
|
0003348 |
|
Low blood sugar
|
0001943 | |
| Increased serum lactate | 0002151 | |
| Increased serum pyruvate | 0003542 | |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Lactic acidosis |
Increased lactate in body
|
0003128 |
| Leukodystrophy | 0002415 | |
| Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
| Neuronal loss in the cerebral cortex | 0007190 | |
| Periventricular leukomalacia | 0006970 | |
| Proximal renal tubular acidosis | 0002049 | |
|
Seizure
|
0001250 | |
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
|
|---|
|
Several inborn errors of metabolism have certain features similar to those of PC deficiency. Similar disorders to consider in the differential diagnosis include biotinidase deficiency, holocarboxylase synthase deficiency, pyruvate dehydrogenase deficiency, as well as respiratory chain disorders, tricarboxylic acid cycle disorder, and gluconeogenic defects.
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.
NIH Hosts Rare Disease Day Event, Twitter Chat
January 24, 2019
Nutritional Interventions in Primary Mitochondrial Disorders: Developing an Evidence Base
Tuesday, December 2, 2014 -
Wednesday, December 3, 2014
Location: NIH Campus,
Bethesda,
MD
Description: The goal of this meeting is to explore the use of nutritional interventions, including dietary supplements, in primary mitochondrial disorders (PMD); identify gaps in knowledge; develop a research agenda; and identify research opportunities to promote an evidence base for the use of nutritional interventions in primary mitochondrial disorders.
Contact: Kathryn Camp, MS, RD, CSP,(301) 435-3608, campkm@od.nih.gov
Co-funding Institute(s): Office of Dietary Supplements, Office of Rare Diseases Research
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
Is there any chance of having a healthy baby for parents who have the condition or are carriers? See answer
