Paper Information

Journal:   INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM (IJEM)   APRIL 2014 , Volume 12 , Number 2; Page(s) 0 To 0.
 
Paper: 

FIRST REPORT OF 3-OXOTHIOLASE DEFICIENCY IN IRAN

 
 
Author(s):  SHIASI ARANI KOBRA*, SOLTANI BABAK
 
* RESEARCH CENTER FOR BIOCHEMISTRY AND NUTRITION IN METABOLIC DISORDERS, KASHAN UNIVERSITY OF MEDICAL SCIENCES, KASHAN, I.R., 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.

 
Keyword(s): METHYLACETOACETYL-COA THIOLASE DEFICIENCY, BETA-KETOTHIOLASE DEFICIENCY, 3-OXOTHIOLASE DEFICIENCY, ACIDOSIS
 
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