First report of 3-oxothiolase deficiency in iran.
BACKGROUND
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.


METHODS
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.


CONCLUSIONS
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.
Research Center for Biochemistry and Nutrition in Metabolic Disorders, Kashan University of Medical Sciences, Kashan, IR Iran.
Kobra
K
Shiasi Arani
Research Center for Biochemistry and Nutrition in Metabolic Disorders, Kashan University of Medical Sciences, Kashan, IR Iran.
Babak
B
Soltani
3-Oxothiolase Deficiency; Acidosis; Beta-ketothiolase Deficiency; Methylacetoacetyl-CoA Thiolase Deficiency