Beta-ketothiolase deficiency

Beta-ketothiolase deficiency is an inherited disorder in which the body cannot effectively process a protein building block (amino acid) called isoleucine. This disorder also impairs the body's ability to process ketones, which are molecules produced during the breakdown of ...1

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Symptoms of Beta-ketothiolase deficiency

Symptoms: The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. Signs and Symptoms

  • Autosomal ...
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Types of Beta-ketothiolase deficiency

Some types of this condition may include:2 Types of beta-ketothiolase deficiency:

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Genetics of Beta-ketothiolase deficiency

Genetic Changes: Mutations in the ACAT1 gene cause beta-ketothiolase deficiency . This gene provides instructions for making an enzyme that is found in the energy-producing centers within cells ( mitochondria ). This enzyme plays an essential role in breaking down proteins ...3

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Names and Terminology

Other Names for This Condition

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  1. Source: GHR (NLM/NIH): condition/ beta-ketothiolase-deficiency
  2. Source: NCI Thesaurus
  3. Source: GHR (NLM/NIH): condition/ beta-ketothiolase-deficiency

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