First Report of 3-Oxothiolase Deficiency in Iran
| Author | Kobra Shiasi Arani | en |
| Author | Babak Soltani | en |
| Issued Date | 2014-04-01 | en |
| 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. | en |
| DOI | https://doi.org/10.5812/ijem.10960 | en |
| Keyword | Methylacetoacetyl-CoA Thiolase Deficiency | en |
| Keyword | Beta-ketothiolase Deficiency | en |
| Keyword | 3-Oxothiolase Deficiency | en |
| Keyword | Acidosis | en |
| Publisher | Brieflands | en |
| Title | First Report of 3-Oxothiolase Deficiency in Iran | en |
| Type | Case Report | en |
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