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

Hedyeh Saneifard; Asieh Mosallanejad; Aida Fallahzadeh; Ali Sheikhy

doi:10.1002/ccr3.4528

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

Clin Case Rep. 2021 Jul 23;9(7):e04528. doi: 10.1002/ccr3.4528. eCollection 2021 Jul.

Authors

Hedyeh Saneifard¹, Asieh Mosallanejad², Aida Fallahzadeh^{3

4}, Ali Sheikhy^{3

4}

Affiliations

¹ Mofid Children's Hospital Shahid Beheshti University of Medical Sciences Tehran Iran.
² Imam Hosein Medical Center Shahid Beheshti University of Medical Sciences Tehran Iran.
³ Research Department Tehran Heart Center Tehran University of Medical Sciences Tehran Iran.
⁴ Non-Communicable Diseases Research Center (NCDRC) Endocrinology and Metabolism Population Sciences Institute Tehran University of Medical Sciences Tehran Iran.

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.

Publication types

Case Reports