3‐Hydroxyisobutyryl‐CoA hydrolase deficiency in an infant with developmental delay and high anion gap acidosis

Abstract

Abstract Due to the rarity of this disorder, paying attention to diagnostic clues is important. Low valine formula seems to be effective in improvement of patient's symptoms. Prevention of consanguineous marriage is the best way to prevent this disease.

Keywords

• 3‐hydroxyisobutyryl‐CoA
• acidosis
• developmental disability
• dystonia