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Succinyl-CoA acetoacetate transferase deficiency(SCOTD)

MedGen UID:
137979
Concept ID:
C0342792
Disease or Syndrome
Synonyms: 3-Oxoacid CoA Transferase Deficiency; SCOTD; SUCCINYL-CoA:3-KETOACID CoA-TRANSFERASE DEFICIENCY; Succinyl-CoA:3-oxoacid CoA transferase deficiency
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, Orphanet
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
SNOMED CT: Succinyl-coenzyme A acetoacetate transferase deficiency (238004006); Succinyl-CoA acetoacetate transferase deficiency (238004006); Succinyl-CoA 3-ketoacid transferase deficiency (238004006); 3-Ketoacid CoA transferase deficiency (238004006); Thioacyl transferase deficiency (238004006)
 
Gene (location): OXCT1 (5p13.1)
OMIM®: 245050
Orphanet: ORPHA832

Definition

Ketone bodies are major vectors of energy transfer from the liver to extrahepatic tissues and are the main source of lipid-derived energy for the brain. Mitchell et al. (1995) reviewed medical aspects of ketone body metabolism, including the differential diagnosis of abnormalities. As the first step of ketone body utilization, succinyl-CoA:3-oxoacid CoA transferase (SCOT, or OXCT1; EC 2.8.3.5) catalyzes the reversible transfer of CoA from succinyl-CoA to acetoacetate. [from OMIM]

Additional description

From GHR
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.  http://ghr.nlm.nih.gov/condition/succinyl-coa3-ketoacid-coa-transferase-deficiency

Clinical features

Ketonuria
MedGen UID:
505406
Concept ID:
CN002640
Finding
High levels of ketone bodies in the urine.
Vomiting
MedGen UID:
776588
Concept ID:
C2712332
Finding
Episodic ketoacidosis
MedGen UID:
349256
Concept ID:
C1859860
Finding
Ketonuria
MedGen UID:
505406
Concept ID:
CN002640
Finding
High levels of ketone bodies in the urine.
Tachypnea
MedGen UID:
66669
Concept ID:
C0231835
Sign or Symptom
Increased RESPIRATORY RATE.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGSuccinyl-CoA acetoacetate transferase deficiency
Follow this link to review classifications for Succinyl-CoA acetoacetate transferase deficiency in Orphanet.

Recent clinical studies

Diagnosis

Rolland MO, Guffon N, Mandon G, Divry P
J Inherit Metab Dis 1998 Aug;21(6):687-8. PMID: 9762611
Niezen-Koning KE, Wanders RJ, Ruiter JP, Ijlst L, Visser G, Reitsma-Bierens WC, Heymans HS, Reijngoud DJ, Smit GP
Eur J Pediatr 1997 Nov;156(11):870-3. PMID: 9392403

Prognosis

Barić I, Sarnavka V, Fumić K, Maradin M, Begović D, Ruiter JP, Wanders RJ
J Inherit Metab Dis 2001 Feb;24(1):81-2. PMID: 11286388

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