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Genetics Home Reference: your guide to understanding genetic conditions
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Succinyl-CoA:3-ketoacid CoA transferase deficiency

Reviewed December 2011

What is succinyl-CoA:3-ketoacid CoA transferase deficiency?

Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is an inherited disorder that impairs the body's ability to break down ketones, which are molecules produced in the liver during the breakdown of fats.

The signs and symptoms of SCOT deficiency typically appear within the first few years of life. Affected individuals experience episodes of extreme tiredness (lethargy), appetite loss, vomiting, rapid breathing, and, occasionally, seizures. These episodes, which are called ketoacidotic attacks, sometimes lead to coma. About half of affected individuals have a ketoacidotic attack within the first 4 days of life. Affected individuals have no symptoms of the disorder between ketoacidotic attacks.

People with SCOT deficiency usually have a permanently elevated level of ketones in their blood (persistent ketosis). If the level of ketones gets too high, which can be brought on by infections, fevers, or periods without food (fasting), a ketoacidotic attack can occur. The frequency of ketoacidotic attacks varies among affected individuals.

How common is succinyl-CoA:3-ketoacid CoA transferase deficiency?

The prevalence of SCOT deficiency is unknown. More than 20 cases of this condition have been reported in the scientific literature.

What genes are related to succinyl-CoA:3-ketoacid CoA transferase deficiency?

Mutations in the OXCT1 gene cause SCOT deficiency. The OXCT1 gene provides instructions for making an enzyme called succinyl-CoA:3-ketoacid CoA transferase (SCOT). The SCOT enzyme is made in the energy-producing centers of cells (mitochondria). The enzyme plays a role in the breakdown of ketones, which are an important source of energy during fasting or when energy demands are increased, such as during illness or when exercising.

OXCT1 gene mutations result in the production of a SCOT enzyme with little or no function. A reduction in the amount of functional enzyme leads to an inability to break down ketones, resulting in decreased energy production and an elevated level of ketones in the blood. If these signs become severe, a ketoacidotic attack can occur. Individuals with mutations that create an enzyme with partial function are still prone to ketoacidotic attacks, but are less likely to have persistent ketosis.

Related Gene(s)

Changes in this gene are associated with succinyl-CoA:3-ketoacid CoA transferase deficiency.

  • OXCT1

How do people inherit succinyl-CoA:3-ketoacid CoA transferase deficiency?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Where can I find information about diagnosis or management of succinyl-CoA:3-ketoacid CoA transferase deficiency?

These resources address the diagnosis or management of succinyl-CoA:3-ketoacid CoA transferase deficiency and may include treatment providers.

  • Genetic Testing Registry: Succinyl-CoA acetoacetate transferase deficiency (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0342792)
  • MedlinePlus Encyclopedia: Ketones--Urine (http://www.nlm.nih.gov/medlineplus/ency/article/003585.htm)
  • MedlinePlus Encyclopedia: Serum Ketones Test (http://www.nlm.nih.gov/medlineplus/ency/article/003498.htm)

You might also find information on the diagnosis or management of succinyl-CoA:3-ketoacid CoA transferase deficiency in Educational resources (http://www.ghr.nlm.nih.gov/condition/succinyl-coa3-ketoacid-coa-transferase-deficiency/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/succinyl-coa3-ketoacid-coa-transferase-deficiency/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about succinyl-CoA:3-ketoacid CoA transferase deficiency?

You may find the following resources about succinyl-CoA:3-ketoacid CoA transferase deficiency helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for succinyl-CoA:3-ketoacid CoA transferase deficiency?

  • 3-oxoacid CoA transferase deficiency
  • ketoacidosis due to SCOT deficiency
  • SCOT deficiency
  • succinyl-CoA:3-oxoacid CoA transferase deficiency
  • succinyl-CoA 3-oxoacid transferase deficiency
  • succinyl-CoA:acetoacetate transferase deficiency

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about succinyl-CoA:3-ketoacid CoA transferase deficiency?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding succinyl-CoA:3-ketoacid CoA transferase deficiency?

autosomal ; autosomal recessive ; breakdown ; cell ; CoA ; coma ; deficiency ; enzyme ; fasting ; gene ; inherited ; ketosis ; lethargy ; mitochondria ; prevalence ; recessive ; transferase

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Berry GT, Fukao T, Mitchell GA, Mazur A, Ciafre M, Gibson J, Kondo N, Palmieri MJ. Neonatal hypoglycaemia in severe succinyl-CoA: 3-oxoacid CoA-transferase deficiency. J Inherit Metab Dis. 2001 Oct;24(5):587-95. (http://www.ncbi.nlm.nih.gov/pubmed/11757586?dopt=Abstract)
  • Fukao T, Ishii T, Amano N, Kursula P, Takayanagi M, Murase K, Sakaguchi N, Kondo N, Hasegawa T. A neonatal-onset succinyl-CoA:3-ketoacid CoA transferase (SCOT)-deficient patient with T435N and c.658-666dupAACGTGATT p.N220_I222dup mutations in the OXCT1 gene. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S307-13. doi: 10.1007/s10545-010-9168-5. Epub 2010 Jul 21. (http://www.ncbi.nlm.nih.gov/pubmed/20652411?dopt=Abstract)
  • Fukao T, Mitchell GA, Song XQ, Nakamura H, Kassovska-Bratinova S, Orii KE, Wraith JE, Besley G, Wanders RJ, Niezen-Koning KE, Berry GT, Palmieri M, Kondo N. Succinyl-CoA:3-ketoacid CoA transferase (SCOT): cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutations. Genomics. 2000 Sep 1;68(2):144-51. (http://www.ncbi.nlm.nih.gov/pubmed/10964512?dopt=Abstract)
  • Fukao T, Sass JO, Kursula P, Thimm E, Wendel U, Ficicioglu C, Monastiri K, Guffon N, Barić I, Zabot MT, Kondo N. Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency. Biochim Biophys Acta. 2011 May;1812(5):619-24. doi: 10.1016/j.bbadis.2011.01.015. Epub 2011 Feb 2. (http://www.ncbi.nlm.nih.gov/pubmed/21296660?dopt=Abstract)
  • Fukao T, Shintaku H, Kusubae R, Zhang GX, Nakamura K, Kondo M, Kondo N. Patients homozygous for the T435N mutation of succinyl-CoA:3-ketoacid CoA Transferase (SCOT) do not show permanent ketosis. Pediatr Res. 2004 Dec;56(6):858-63. Epub 2004 Oct 20. (http://www.ncbi.nlm.nih.gov/pubmed/15496607?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: December 2011
Published: December 22, 2014