Open Access3‐Hydroxyisobutyryl‐CoA hydrolase deficiency in an infant with developmental delay and high anion gap acidosis
Author(s) -
Saneifard Hedyeh,
Mosallanejad Asieh,
Fallahzadeh Aida,
Sheikhy Ali
Publication year - 2021
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.4528
Subject(s) - medicine , newborn screening , pediatrics , disease , acidosis , valine , endocrinology , intensive care medicine , biochemistry , amino acid , biology
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.