First Report of 3-Oxothiolase Deficiency in Iran

INTRODUCTION: Mitochondrial acetoacetyl-CoA thiolase (3-oxothiolase) deficiency is a rare metabolic disorder involving ketone body metabolism characterized by acute attacks of vomiting, acidosis, ketosis, and lethargy along with some laboratory criteria including excessive excretion of 2-methyl-3-hydroxybutyric acid in urine. CASE PRESENTATION: This is a case report of 3-oxothiolase deficiency in a young Iranian boy with presentation of intractable vomiting and severe metabolic acidosis following a common cold in six months of age with abundant urinary 2-methyl-3- hydroxybutyric acid. DISCUSSION: This is the first Iranian 3-oxothiolase deficiency case report as searched in the literature. Because of the high rate of consanguineous marriages in Iran, physicians should consider the 3-oxothiolase deficiency in the differential diagnosis of any patient with intractable vomiting and severe metabolic acidosis.