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Genetic and Rare Diseases Information Center (GARD)

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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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

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]
Last updated: 8/3/2011

References

  1. Beta-ketothiolase deficiency. Genetics Home Reference. January 2008; http://ghr.nlm.nih.gov/condition/beta-ketothiolase-deficiency. Accessed 8/3/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Beta ketothiolase deficiency. This website is maintained by the National Library of Medicine.
  • 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.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an 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 Beta ketothiolase deficiency. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • 2-methyl-3-hydroxybutyricacidemia
  • 3-ketothiolase deficiency
  • 3-oxothiolase deficiency
  • Alpha-methylacetoaceticaciduria
  • Mitochondrial acetoacetyl-CoA Thiolase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.