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3-Hydroxyisobutyryl-Coa Hydrolase Deficiency in an Infant With Developmental Delay and High Anion Gap Acidosis Publisher



Saneifard H1 ; Mosallanejad A2 ; Fallahzadeh A3, 4 ; Sheikhy A3, 4
Authors

Source: Clinical Case Reports Published:2021


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. © 2021 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.