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3-Hydroxyisobutyryl-CoA deacylase deficiency

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3-Hydroxyisobutyryl-CoA deacylase deficiency is a rare autosomal recessive condition that is associated with severely delayed psychomotor development, neurodegeneration, increased lactic acid and brain lesions in the basal ganglia.[1] Fewer than 10 patients have been described with this condition.

Signs and symptoms

These include


This condition is caused by mutations in the HIBCH gene. This gene is located on the long arm of chromosome 2 (2q32).


This enzyme is involved in the metabolism of the amino acid valine. Mutations in this enzyme result in the accumulation of methacrylic acid. When this acid is acetylated, it is very reactive with free sulfhydryl groups. When the levels of this enzymes are too low valine levels increase, particularly in the mitochondria.

How this produces the clinical picture is not yet clear.


This is difficult on clinical grounds alone. It may be suspected by examination of the urine for conjugates of methacrylic acid. The diagnosis is made by sequencing the mutated gene.

Differential diagnosis


There is currently no curative treatment for this condition.

Supportive management is all that is currently available.


This condition was first described in 1982.[2]


  1. Yamada K, Naiki M, Hoshino S, Kitaura Y, Kondo Y, Nomura N, Kimura R, Fukushi D, Yamada Y, Shimozawa N, Yamaguchi S, Shimomura Y, Miura K, Wakamatsu N (2014) Clinical and biochemical characterization of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency that causes Leigh-like disease and ketoacidosis. Mol Genet Metab Rep. 1:455-460
  2. Brown GK, Hunt SM, Scholem R, Fowler K, Grimes A, Mercer JFB, Truscott RM, Cotton RGH, Rogers JG, Danks D M (1982) Beta-hydroxyisobutyryl coenzyme A deacylase deficiency: a defect in valine metabolism associated with physical malformations. Pediatrics 70: 532-538


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