first report of 3-oxothiolase deficiency in iran
نویسندگان
چکیده
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. 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. 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.
منابع مشابه
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 ...
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عنوان ژورنال:
international journal of endocrinology and metabolismجلد ۱۲، شماره ۲، صفحات ۰-۰
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