first report of 3-oxothiolase deficiency in iran

نویسندگان

kobra shiasi arani research center for biochemistry and nutrition in metabolic disorders, kashan university of medical sciences, kashan, ir iran; research center for biochemistry and nutrition in metabolic disorders, kashan university of medical sciences, kashan, ir iran. tel: +98-3615550026

babak soltani research center for biochemistry and nutrition in metabolic disorders, kashan university of medical sciences, kashan, ir iran

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.

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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 metabolism

جلد ۱۲، شماره ۲، صفحات ۰-۰

کلمات کلیدی
[ ' m e t h y l a c e t o a c e t y l ' , ' c o a t h i o l a s e d e f i c i e n c y ' , ' b e t a ' , ' k e t o t h i o l a s e d e f i c i e n c y ' , 3 , ' o x o t h i o l a s e d e f i c i e n c y ' , ' a c i d o s i s ' ]

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