- 3-oxoacid CoA transferase deficiency
- Ketoacidosis due to SCOT deficiency
- OXCT1 deficiency
- Succinyl-CoA acetoacetate transferase deficiency
- Succinyl-CoA:3-ketoacid CoA transferase deficiency
Your Questions Answered
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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?
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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? Click here for answer