| Entry |
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| Name |
Succinyl CoA:3-oxoacid CoA transferase (SCOT) deficiency
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| Description |
Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is an inborn error of ketone body metabolism. SCOT is a key mitochondrial enzyme in the metabolism of ketone bodies in various organs. Deficiency of SCOT activity inhibits peripheral ketone body utilization and causes episodes of severe ketoacidosis.
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| Category |
Inherited metabolic disease
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| Pathway |
| Synthesis and degradation of ketone bodies | | Valine, leucine and isoleucine degradation | | Butanoate metabolism |
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| Gene |
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| Marker |
High levels of ketones of blood and urea
Normal levels of blood glucose
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| Drug |
Intravenous fluid therapy including glucose and sodium bicarbonate.
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| Other DBs |
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| Reference |
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| Authors |
Fukao T, Sass JO, Kursula P, Thimm E, Wendel U, Ficicioglu C, Monastiri K, Guffon N, Baric I, Zabot MT, Kondo N |
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| Title |
Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency. |
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| Journal |
Biochim Biophys Acta 1812:619-24 (2011) |
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| Reference |
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| Authors |
Niezen-Koning KE, Wanders RJ, Ruiter JP, Ijlst L, Visser G, Reitsma-Bierens WC, Heymans HS, Reijngoud DJ, Smit GP |
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| Title |
Succinyl-CoA:acetoacetate transferase deficiency: identification of a new patient with a neonatal onset and review of the literature. |
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| Journal |
Eur J Pediatr 156:870-3 (1997) |
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| Reference |
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| Authors |
Sass JO |
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| Title |
Inborn errors of ketogenesis and ketone body utilization. |
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| Journal |
J Inherit Metab Dis 35:23-8 (2012) |
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