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

Hedyeh SaneifardAsieh MosallanejadAida FallahzadehAli Sheikhy

Published in: Clinical case reports (2021)

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.

Keyphrases

working memory
case report
ionic liquid
fatty acid
sleep quality
replacement therapy
preterm birth
low birth weight