Learn About Holocarboxylase Synthetase Deficiency

What is the definition of Holocarboxylase Synthetase Deficiency?

Holocarboxylase synthetase deficiency is an inherited disorder in which the body is unable to use the vitamin biotin effectively. This disorder is classified as a multiple carboxylase deficiency, which is a group of disorders characterized by impaired activity of certain enzymes that depend on biotin.

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What are the causes of Holocarboxylase Synthetase Deficiency?

Mutations in the HLCS gene cause holocarboxylase synthetase deficiency. The HLCS gene provides instructions for making an enzyme called holocarboxylase synthetase. This enzyme is important for the effective use of biotin, a B vitamin found in foods such as liver, egg yolks, and milk. Holocarboxylase synthetase attaches biotin to certain enzymes that are essential for the normal production and breakdown of proteins, fats, and carbohydrates in the body. Mutations in the HLCS gene reduce the enzyme's ability to attach biotin to these enzymes, preventing them from processing nutrients properly and disrupting many cellular functions. These defects lead to the serious medical problems associated with holocarboxylase synthetase deficiency.

How prevalent is Holocarboxylase Synthetase Deficiency?

The exact incidence of this condition is unknown, but it is estimated to affect 1 in 87,000 people.

Is Holocarboxylase Synthetase Deficiency an inherited disorder?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

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Who are the sources who wrote this article ?

Published Date: May 01, 2020Published By: National Institutes of Health

What are the Latest Advances for Holocarboxylase Synthetase Deficiency?
Case report of holocarboxylase synthetase deficiency (late-onset) in 2 Chinese patients.
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