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||
|Percent of people who have these symptoms is not available through HPO|
Increased respiratory rate or depth of breathing
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 diagnoses include physiological ketosis and ketoacidosis due to beta-ketothiolase deficiency (see this term).
Visit the Orphanet disease page for more information.
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.
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.
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My son has frequent ketosis and occasional ketoacidosis. He has a diagnosis of ketotic hypoglycemia, but seems to have a lot of non-fasting ketotic vomiting episodes. I believe that he may have SCOT deficiency. Would SCOT deficiency cause abnormal amino acid, organic acid or carnitine results? If not, what type of lab work would support a diagnosis of this deficiency? How is the diagnosis of SCOT deficiency confirmed? What kind of lab results would you expect from a patient with SCOT deficiency while they are in crisis? How common is SCOT deficiency? How can I find a doctor or clinic that is familiar with this deficiency?
My one year-old daughter was admitted in the hospital because of breathing problems. Her ph level was 6.7 and she was unconscious for eight days. During those days there were many problems. Her doctor said that she had SCOT deficiency OR carnitine palmitoyl transferase 1 deficiency. Now she is normal. Will this happen again? See answer