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SCOT deficiency

Other Names for this Disease
  • 3-oxoacid CoA transferase deficiency
  • Ketoacidosis due to SCOT deficiency
  • Succinyl-CoA acetoacetate transferase deficiency
  • Succinyl-CoA:3-oxoacid CoA transferase deficiency
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Your Question

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? 

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is SCOT deficiency?

SCOT deficiency is a metabolic disease that is caused by reduced or missing levels of 3-ketoacid CoA transferase. This enzyme is necessary for the body to use ketones. Ketones are substances produced when fat cells break down and are an important source of energy, especially when there is a shortage of glucose. SCOT deficiency is characterized by intermittent ketoacidosis, with the first episode often occurring in newborns or infants (6 to 20 months).[1] In ketoacidosis ketones build-up in the body. Symptoms of ketoacidosis may vary but can include trouble breathing, poor feeding, vomiting, lethargy, unconsciousness, and coma.[1] Crises need to be addressed immediately. Fortunately these crises tend to respond well to IV fluids including glucose and sodium bicarbonate. Patients with SCOT defiency are symptom free between episodes. This deficiency can be caused by mutations in the OXCT1 gene.[2]
Last updated: 9/4/2010

What are the symptoms of SCOT deficiency?

Symptoms of SCOT deficiency include ketoacidosis crises that are often brought on by physical stress, fasting, or illness. Between crises, patients have no symptoms. Normal growth and development are expected under proper treatment which prevents the occurrence of severe ketoacidotic attacks.[1]
Last updated: 9/4/2010

Would SCOT deficiency cause abnormal amino acid, organic acid or carnitine results?

No typical organic acids or acylcarnitines allow physicians to diagnose SCOT deficiency.[13711]
Last updated: 9/4/2010

If not, what type of lab work would assist in the diagnosis of SCOT deficiency?

During an acute ketotic/ketoacidotic episode, at least blood gas, blood glucose, lactate, pyruvate, ammonia, and urinary organic acids should be examined.[1]
Last updated: 9/4/2010

What kind of lab results would you expect from a patient with SCOT deficiency while they are in crisis?

Clinically, SCOT deficiency is characterized by intermittent ketoacidotic events with no symptoms in between episodes. SCOT-deficient patients develop ketosis/ketoacidosis easily in ketogenic situations such as fasting, febrile illness and other periods of stress. Neonatal onset is common. Although there are no clinical symptoms between episodes, ketone body levels are frequently high, which can sometimes be described as permanent or persistent ketosis.[1]

Blood gas analysis reveals severe metabolic acidosis. In some cases, blood pH and HCO3 may be low. Blood glucose level is usually normal, although hypoglycemia may be present. Lactate, pyruvate, and ammonia levels are usually normal during ketoacidotic episodes. Urinary ketone body tests are usually positive.[1]
Last updated: 9/4/2010

How is the diagnosis of SCOT deficiency confirmed?

The diagnosis of SCOT deficiency should be considered when clinical manifestations are present. Enzyme assay is essential to confirm the diagnosis.[1]
Last updated: 9/4/2010

How common is SCOT deficiency?

More than 20 SCOT-deficient patients have been reported in the United States, Canada, France, the United Kingdom, Spain, South Africa, Japan, and the Netherlands. The condition may be underdiagnosed in some patients with fatal neonatal ketoacidosis or with milder episodes of ketosis.[1]
Last updated: 9/4/2010

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:
Last updated: 10/18/2013