HIBCH deficiency

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Disease Overview

HIBCH deficiency is a rare metabolic disease. Early symptoms include poor muscle tone, poor feeding, seizures, and a gradual loss of skills. HIBCH deficiency can cause signs and symptoms similar to another disease, called Leigh syndrome.[13074] Diagnosis is aided by blood tests which show high levels of lactic acid, and imaging studies which show changes in the “globi pallidi” structure of the brain.[13073][13074]

HIBCH deficiency occurs when a person inherits a mutation in both copies of their HIBCH gene. This pattern of inheritance is called “autosomal recessive.”[13073] The HIBCH gene tells the body how to make an enzyme called 3-hyroxyisobutyryl-CoA hydrolase. When the body does not have enough working enzyme, it can not break down the amino acid valine. As a result, toxic valine metabolites build up in the body. More specifically, these toxic metabolites build up within the mitochondria of the body’s cells.[13075]

Currently, there is not a cure for HIBCH deficiency. Children with HIBCH deficiency require a multidisciplinary team of doctors who can assess how the deficiency is affecting each body system and recommend appropriate treatments.


Synonyms

  • 3-Hydroxyisobutyryl-CoA hydrolase deficiency
  • Beta-hydroxyisobutyryl-CoA deacylase deficiency
  • Methacrylic aciduria
  • Methacrylic acid toxicity
  • Valine metabolic defect
  • Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency

For more information, visit GARD.

National Organization for Rare Disorders