Dear Biochemistry
Students,
Dear Biochemistry
Students,
First of all, thank you
for taking your time to be interested in Thiolase. Thiolase is a dual function
enzyme. First, thiolase is used in the last step of β oxidation of fatty acid
metabolism. Second, it regulates the production of ketone bodies. It uses
CoEnzyme A as a cofactor!
Thiolase is important in
our fatty acid metabolism and production of ketone bodies. But some people can
be deficient in Thiolase (known as β-ketothiolase deficiency).
Watch out!
• β-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 fats.
• The signs and symptoms
of beta-ketothiolase deficiency 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.
But,
• It is estimated to affect fewer than 1 in 1 million
newborns.
Genetics,
• Mutations in the ACAT1 gene cause β-ketothiolase
deficiency.
Mutations in the ACAT1
gene reduce or eliminate the activity of the ACAT1 enzyme. A shortage of this
enzyme prevents the body from processing proteins and fats properly. As a
result, related compounds can build up to toxic levels in the blood. These
substances cause the blood to become too acidic (ketoacidosis), which can
damage the body's tissues and organs, particularly in the nervous system.
Vote for Thiolase!
Sincerely
- Jin
http://ghr.nlm.nih.gov/condition/beta-ketothiolase-deficiency