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Genetic and Rare Diseases Information Center (GARD)

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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 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?

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

How is SCOT deficiency diagnosed?

Diagnosis of SCOT deficiency is made in people showing the signs and symptoms of the condition and who have absent or reduced SCOT enzyme activity.[1]
Last updated: 9/4/2010

What triggers ketoacidotic events?

The ketosis and ketoacidosis can be triggered by stress to the body, such as by fasting or a feverish illness.[1]
Last updated: 7/10/2009

What measures can be taken to avoid a repeat ketoacidotic event?

We recommend speaking with your child's doctor to learn about her treatment options, screening recommendation, and prevention strategies.

In general, management of SCOT deficiency may include restriction of protein intake (1.5-2.0 g/kg/day). Some patients may receive frequent carbohydrate-rich meals. In patients with persistent ketosis and low blood HCO3 (bicarbonate) levels, oral sodium bicarbonate supplementation may be recommended. Parents may be instructed to monitor the child’s urinary ketone levels (particularly in the morning prior to breakfast). Fasting should be avoided. If the child is sick or vomits, IV glucose should be considered. If urinary ketones are higher than usual in milder illness, some carbohydrate-rich snack or drink should be provided.[1]
Last updated: 7/10/2009

What is carnitine palmitoyltransferase I deficiency?

Carnitine palmitoyltransferase I deficiency is a condition that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food. Carnitine, a natural substance acquired mostly through the diet, is required by cells to process fats and produce energy. Symptoms of this condition include low level of keytones and low blood sugar (hypoketotic hypoglycemia), which can result in a loss of consciousness or seizures. People with this disorder typically also have an enlarged liver (hepatomegaly), muscle weakness, nervous system damage, and elevated levels of carnitine in the blood. It is caused by mutations in the CPT1A gene.[3]
Last updated: 7/10/2009

What are the symptoms of carnitine palmitoyltransferase I deficiency?

Symptoms of carnitine palmitoyltransferase I deficiency are associated with the episodes of hypoketotic hypoglycemia (i.e., low level of ketones and blood sugar). During these episodes signs and symptoms may include loss of consciousness and seizures. Other symptoms may include an enlarged liver, muscle weakness, nervous system damage, and elevated levels of carnitine in the blood. Normal growth and development are expected under proper treatment which prevents the occurrence of hypoketotic hypoglycemic attacks.[4]
Last updated: 7/10/2009

How might carnitine palmitoyltransferase I deficiency be treated? 

Treatment of hypoketotic hypoglycemic attacks due to carnitine palmitoyltransferase I deficiency often involves prompt treatment with intravenous 10% dextrose.[4]
Last updated: 6/29/2010

How can hypoketotic hypoglycemic attacks be avoided?

We recommend speaking with your child's doctor to learn about her treatment options, screening recommendation, and prevention strategies.

In general, hypoglycemia may be prevented in infants with carnitine palmitoyltransferase I deficiency by eating frequent meals during the day and recieving cornstarch continuously at night. Adults need a high-carbohydate, low-fat diet to provide a constant supply of carbohydrate energy and medium-chain triglycerides to provide approximately one-third of total calories. Fasting should not last more than 12 hours during illness, surgery, or medical procedures. Prevention of hypoglycemia reduces the risk of related neurologic damage. Additional monitoring of liver enzymes (AST, ALT, ALP) and liver function (including PT and PTT) at clinic appointments even when the person is experiencing no symptoms and during periods of reduced caloric intake and febrile illness is often recommended. People with this deficiency should avoid prolonged fasting, and potentially hepatotoxic agents such as valproate and salicylate. Female's who carry a CPT1A gene mutation are at risk for acute fatty liver during pregnancy. As a result pregnant female carriers should be monitored for this complication.[4]
Last updated: 7/10/2009

Will medical crises due to either carnitine palmitoyl transferase 1 deficiency or SCOT deficiency happen again?

Children with carnitine palmitoyl transferase 1 deficiency, and those with SCOT deficiency are at risk for repeat medical crises (ketoacidotic or hypoketotic hypoglycemia events). Preventative measures to avoid these attacks, such as those described above, can be taken to reduce their risk for a recurrence.
Last updated: 7/10/2009