First report of 3-oxothiolase deficiency in iran.

Abstract

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.

• Authors: Kobra Shiasi Arani, Babak Soltani
• Journal: International journal of endocrinology and metabolism (Int J Endocrinol Metab) Vol. 12 Issue 2 Pg. e10960 (Apr 2014) ISSN: 1726-913X [Print] Netherlands
• PMID: 24782902 (Publication Type: Case Reports)