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Beta ketothiolase deficiency
Other Names for this Disease
- 2-methyl-3-hydroxybutyricacidemia
- 3-ketothiolase deficiency
- 3-oxothiolase deficiency
- Alpha-methylacetoaceticaciduria
- Mitochondrial acetoacetyl-CoA Thiolase deficiency
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Overview
Beta-ketothiolase deficiency is an inherited disorder in which the body cannot effectively process a protein building block (amino acid) called isoleucine. This condition also impairs the body's ability to process ketones, which are molecules produced during the breakdown of fats. Signs and symptoms typically appear between the ages of 6 months and 24 months. Affected children experience episodes of vomiting, dehydration, difficulty breathing, extreme tiredness (lethargy), and occasionally seizures. These episodes, which are called ketoacidotic attacks, sometimes lead to coma. Ketoacidotic attacks are frequently triggered by infections, periods without food (fasting), or increased intake of protein-rich foods. This condition is inherited in an autosomal recessive fashion and is caused by mutations in the ACAT1 gene.[1]
References
- Beta-ketothiolase deficiency. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/beta-ketothiolase-deficiency. Accessed August 3, 2011.
Your Questions Answered
by the Genetic and Rare Diseases Information Center1 question(s) from the public on Beta ketothiolase deficiency have been answered. See questions and answers. You can also submit a new question.
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General Information
- Genetics Home Reference (GHR) contains information on Beta ketothiolase deficiency. Click on the link to go to GHR and review the information.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Beta ketothiolase deficiency. Click on the link to view a sample search on this topic.
- The Screening, Technology And Research in Genetics (STAR-G) Project has a fact sheet on this condition, which was written specifically for families that have received a diagnosis as a result of newborn screening. This fact sheet provides general information about the condition and answers questions that are of particular concern to parents. To view this fact sheet, click on the link.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Beta ketothiolase deficiency. Click on the link to go to OMIM and review these resources.