The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
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.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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