Succinyl Coa:3-Oxoacid Coa Transferase Deficiency malady
Categories: Genetic diseases, Rare diseases, Metabolic diseases
Aliases & Descriptions for Succinyl Coa:3-Oxoacid Coa Transferase Deficiency:
Orphanet epidemiological data:52
succinyl-coa:3-oxoacid coa transferase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal
succinyl coa:3-oxoacid coa transferase deficiency:
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Metabolic diseases
Inborn errors of metabolism
NIH Rare Diseases:46 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. last updated: 9/4/2010
MalaCards based summary: Succinyl Coa:3-Oxoacid Coa Transferase Deficiency, also known as succinyl-coa:3-oxoacid coa transferase deficiency, is related to gastric cancer, and has symptoms including vomiting, tachypnea and ketonuria. An important gene associated with Succinyl Coa:3-Oxoacid Coa Transferase Deficiency is OXCT1 (3-Oxoacid CoA-Transferase 1). Affiliated tissues include liver and brain.
Genetics Home Reference:24 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.
OMIM:50 Ketone bodies are major vectors of energy transfer from the liver to extrahepatic tissues and are the main source of... (245050) more...
UniProtKB/Swiss-Prot:68 Succinyl-CoA:3-oxoacid CoA transferase deficiency: A disorder of ketone body metabolism, characterized by episodic ketoacidosis. Patients are usually asymptomatic between episodes.
Diseases related to Succinyl Coa:3-Oxoacid Coa Transferase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:
MalaCards organs/tissues related to Succinyl Coa:3-Oxoacid Coa Transferase Deficiency:34
Articles related to Succinyl Coa:3-Oxoacid Coa Transferase Deficiency:
UniProtKB/Swiss-Prot genetic disease variations for Succinyl Coa:3-Oxoacid Coa Transferase Deficiency:68 (show all 11)
Clinvar genetic disease variations for Succinyl Coa:3-Oxoacid Coa Transferase Deficiency:5
Search GEO for disease gene expression data for Succinyl Coa:3-Oxoacid Coa Transferase Deficiency.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet