Hibch Deficiency
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. 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.
HIBCH deficiency occurs when a person inherits a mutation in both copies of their HIBCH gene. This pattern of inheritance is called "autosomal recessive." 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.
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.
HIBCH deficiency occurs when a person inherits a mutation in both copies of their HIBCH gene. This pattern of inheritance is called "autosomal recessive." 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.
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.