The following information may help to address your question:
What is SCOT deficiency?
SCOT deficiency is a
metabolic disease that is caused by reduced or missing levels of an
enzyme called succinyl-CoA:3-ketoacid CoA
transferase (SCOT). This enzyme is necessary for the body to use ketones. Ketones are substances produced in the liver when fats are broken down. Ketones are an important source of energy, especially when there is a shortage of
carbohydrates (sugar). SCOT deficiency is characterized by episodes of ketoacidosis (build-up of ketones in the body).
[1] Symptoms of ketoacidosis may vary but can include trouble breathing, poor feeding, vomiting, and
lethargy. In some cases, the symptoms can progress to include loss of consciousness and a
coma. In between these episodes, individuals with SCOT deficiency do not have any symptoms.
[1]
SCOT deficiency is caused by
mutations (changes) in the
OXCT1 gene. The disease is
inherited in an
autosomal recessive manner.
[2] SCOT deficiency can be diagnosed by ruling out other causes of ketoacidosis and measuring the level of SCOT enzyme.
Genetic testing of the
OXCT1 gene can be used to confirm the diagnosis.
[1] Immediate treatment of ketoacidotic crises is critical. Treatment options include IV fluids such as glucose and sodium bicarbonate. Frequent meals and eating a diet low in fats is important to reduce the frequency of ketoacidotic crises.
[1]
Last updated: 10/7/2017
What are the symptoms of SCOT deficiency?
Symptoms of SCOT deficiency include episodes of ketoacidosis (build-up of ketones in the body). These episodes are often brought on by physical stress, fasting, or illness. The first episode often occurs in newborns or infants between 6-20-months-old.
[1] This is because this is often a time when babies begin to eat less frequent meals. Ketones do not need to be broken down by the body until the storage of glucose (sugars) is low. This often happens after about 4 hours of fasting. However, in some cases, babies with SCOT deficiency may have a ketoacidotic episode within the first few days of life.
[3]
Symptoms of ketoacidosis may vary but can include rapid breathing (
tachypnea), poor feeding, vomiting, and
lethargy. In some cases, the symptoms can progress to include
seizures, loss of consciousness and a
coma.
[1][3] The severity of symptoms during ketoacidotic crises can vary. Between crises, individuals with SCOT deficiency have no symptoms. If the disease is properly treated with diet, normal growth and development are expected.
[1]
Last updated: 10/7/2017
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
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Last updated: 12/6/2017
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