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Disease or Condition — Hormonal, Nutritional, Metabolic, and Immune Disorders:
3-beta-hydroxydehydrogenase deficiency

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Description

Beta-hydroxydehydrogenase deficiency is a rare genetic disorder that affects the body's ability to break down certain fats. It is caused by a mutation in the gene that codes for the enzyme beta-hydroxydehydrogenase, which is responsible for breaking down long-chain fatty acids. Without this enzyme, the body is unable to properly metabolize these fats, leading to a buildup of toxic byproducts in the body. Symptoms of this disorder can include seizures, developmental delays, and movement disorders. Treatment typically involves dietary changes and supplementation with medium-chain fatty acids, which can be metabolized without the need for beta-hydroxydehydrogenase.

Basic Lab Tests (measurements)

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