Scot Deficiency malady

NIH Rare Diseases: 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). 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. 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.³⁰

MalaCards: Scot Deficiency, also known as succinyl-coa:3-oxoacid coa transferase deficiency, is related to succinyl-coa:3-ketoacid coa transferase deficiency and ketoacidosis due to scot deficiency. An important gene associated with Scot Deficiency is OXCT1 (3-oxoacid CoA transferase 1). Affiliated tissues include liver.

Genetics Home Reference: 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.¹⁷

OMIM: 245050

scot deficiency 30 16 succinyl-coa:3-oxoacid coa transferase deficiency 30 16 succinyl coa:3-oxoacid coa transferase deficiency 33 succinyl-coa acetoacetate transferase deficiency 30

3-oxoacid coa transferase deficiency 30 ketoacidosis due to scot deficiency 30 succinyl-coa 43

Diseases related to scot deficiency by text searches and GeneDecks gene sharing:

id	Related Disease	Score	Top Affiliating Genes
1	succinyl-coa:3-ketoacid coa transferase deficiency	7.9
2	ketoacidosis due to scot deficiency	7.9
3	anemia	6.8
4	encephalomyopathy	6.8
5	pancreatitis	6.8
6	sideroblastic anemia	6.8
7	gastric cancer	6.5

Clinical features from OMIM: 245050

Approved drugs:

Drug clinical trials:

Genetic tests related to scot deficiency:

id	Genetic test	Affiliating Genes
1	Scot Deficiency clinical/research	OXCT1

MalaCards organs/tissues related to scot deficiency:

²²

Articles related to scot deficiency:

id	Title	Authors	Year	Affiliating Genes
1	Clinical and molecular characterization of five patie nts with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency. (21296660)	Fukao T.... Kondo N.	2011	OXCT1
2	A 6-bp deletion at the splice donor site of the first intron resulted in aberrant splicing using a cryptic splice site within exon 1 in a patient with succinyl-CoA: 3-Ketoacid CoA transferase (SCOT) deficiency. (16765626)	Fukao T.... Kondo N.	2006	OXCT1
3	Succinyl-CoA:3-ketoacid transferase (SCOT) deficiency in a new patient homozygous for an R217X mutation. (15669687)	Longo N.... Gibson K.M.	2004	OXCT1
4	Growth-inhibitory effects of the ketone body, monoacetoacetin, on human gastric cancer cells with succinyl-CoA: 3-oxoacid CoA-transferase (SCOT) deficiency. (15330163)	Sawai M.... Hirakawa K.	2004	OXCT1
5	Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: two pathogenic mutations, V133E and C456F, in Japanese siblings. (9671268)	Song X.-Q.... Mitchell G.A.	1998	OXCT1
6	Succinyl-CoA:3-ketoacid coenzyme A transferase (SCOT): development of an antibody to human SCOT and diagnostic use in hereditary SCOT deficiency. (9128180)	Song X.Q.... Kondo N.	1997	OXCT1
7	Succinyl CoA:3-oxoacid CoA transferase (SCOT): human cDNA cloning, human chromosomal mapping to 5p13, and mutation detection in a SCOT- deficient patient. (8751852)	Kassovska-Bratinova S.... Mitchell G.A.	1996	OXCT1

Genes related to scot deficiency according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	OXCT1	3-oxoacid CoA transferase 1	11.0	Publications, Disorders