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Disease Profile
SCOT deficiency
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
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Age of onset
Infancy
ICD-10
E71.3
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Succinyl-CoA:3-oxoacid CoA transferase deficiency; Ketoacidosis due to SCOT deficiency; Succinyl-CoA acetoacetate transferase deficiency;
Categories
Congenital and Genetic Diseases; Metabolic disorders
Summary
SCOT deficiency is a
SCOT deficiency is caused by
Symptoms
Symptoms of ketoacidosis may vary but can include rapid breathing (tachypnea), poor feeding, vomiting, and lethargy. In some cases, the symptoms can progress to include
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
Percent of people who have these symptoms is not available through HPO | ||
0000007 | ||
Elevated urinary 3-hydroxybutyric acid | 0040155 | |
Episodic ketoacidosis | 0005974 | |
Ketonuria | 0002919 | |
Neonatal onset | 0003623 | |
Tachypnea |
Increased respiratory rate or depth of breathing
|
0002789 |
Vomiting |
Throwing up
|
0002013 |
Cause
It is especially important for the body to be able to break down ketones when there is not other energy available to the body through glucose (sugars). Ketones are most frequently used for energy during times of fasting between meals, illness, or stress. These are the times when symptoms of SCOT deficiency are most likely to occur.[3]
Diagnosis
Testing Resources
- Orphanet lists international laboratories offering diagnostic testing for this condition.
Treatment
If a ketoacidotic crisis does occur, it is important that people with SCOT deficiency receive treatment right away. People with this disease typically respond well to IV infusions of glucose and sodium bicarbonate during times of ketoacidotic crisis.[1]
Management Guidelines
- Orphanet Emergency Guidelines is an article which is expert-authored and peer-reviewed that is intended to guide health care professionals in emergency situations involving this condition.
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
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Differential diagnoses include physiological ketosis (e.g. ketoacidosis due to significant catabolism due to rotavirus infection) and ketoacidosis due to beta-ketothiolase deficiency or monocarboxylate transporter 1 deficiency.
Visit the Orphanet disease page for more information.
|
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
Metabolic Support UK
5 Hilliards Court
Sandpiper Way
Chester Business Park
Chester, CH4 9QP United Kingdom
Toll-free: 0800 652 3181
Telephone: 0845 241 2173
E-mail: https://www.metabolicsupportuk.org/contact-us
Website: https://www.metabolicsupportuk.org
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- Genetics Home Reference (GHR) contains information on SCOT deficiency. This website is maintained by the National Library of Medicine.
In-Depth Information
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss SCOT deficiency. Click on the link to view a sample search on this topic.
Selected Full-Text Journal Articles
- Fukao T. Succinyl-CoA transferase (SCOT) deficiency. Orphanet Encyclopedia. 2004.
References
- Fukao T. Succinyl-CoA : 3-ketoacid CoA transferase (SCOT deficiency). Orphanet Encyclopedia. September 2004; https://www.orpha.net/data/patho/GB/uk-scot.pdf.
- Succinyl-CoA:3-Oxoacid-CoA Transferase Deficiency; SCOTD. Online Mendelian Inheritance in Man. May 22, 2015; https://www.omim.org/entry/245050.
- Succinyl-CoA:3-ketoacid CoA transferase deficiency. Genetics Home Reference. December 2011; https://ghr.nlm.nih.gov/condition/succinyl-coa3-ketoacid-coa-transferase-deficiency.
- Sasai H, Aoyama Y, Otsuka H, Abdelkreem E, Naiki Y, Kubota M, Sekine Y, Itoh M, Nakama M, Ohnishi H, Fujiki R, Ohara O, and Fukao T. Heterozygous carriers of succinyl-CoA:3 oxoacid CoA transferase deficiency can develop severe ketoacidosis. Journal of Inherited Metabolic Disease. July 10, 2017; https://www.ncbi.nlm.nih.gov/pubmed/28695376.
- Fukao T. Succinyl-CoA:3-ketoacid CoA transferase deficiency. Orphanet. September 2013; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=832.
- Fukao T, Sass JO, Kursula P, Thimm E, Wendel U, Ficicoglu C, Monastiri K, Guffon N, Baric I, Zabot MT, and Kondo N. Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency. Biochimica et Biophysica Acta. May 2011; 1812(5):619-624. https://www.ncbi.nlm.nih.gov/pubmed/21296660.
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