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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)

• serum
  •      potassium
  •      chloride
• urine
  •      anion gap
  •      ammonia
  •      pH

Detailed Disease and Condition Information (use the search buttons below to find details on these topics)
All of the following must be considered when interpreting clinical findings and are too extensive to be covered on this site: