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methylmalonate-semialdehyde dehydrogenase deficiency with cardiac presentation: a case report with literature review
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نویسنده
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alijanpour aghamaleki morteza ,rezapour masoomeh ,babazadeh kazem ,zamani hassan ,aghajanpour faeze
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منبع
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journal of pediatrics review - 2019 - دوره : 7 - شماره : 1 - صفحه:55 -60
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چکیده
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Background: methylmalonate-semialdehyde dehydrogenase deficiency (mmsdhd) is an uncommon autosomal recessive disorder. mmsdh is an enzyme encoded by the protein coding gene aldh6a1 in humans. case presentation: we present a 4-year-old boy with elevated liver enzymes, 3-hydroxyisobutyric aciduria (mmsdhd) and cardiac symptoms. he had a mutated aldh6a1 gene, c.184c>g (p.pro62ala). conclusions: this is one of the rare case reports in the world and the first one in iran that reports mmsdhd with cardiac disease.
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کلیدواژه
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methylmalonate-semialdehyde dehydrogenase deficiency ,cardiac disease ,aldh6a1 ,3-hydroxyisobutyrate ,3-hydroxypropionate
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آدرس
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babol university of medical sciences, health research institute, non-communicable pediatric diseases research center, ایران, babol university of medical sciences, school of traditional medicine, department of medical sciences history, ایران, babol university of medical sciences, health research institute, non-communicable pediatric diseases research center, ایران, shahid beheshti university of medical sciences, shahid modarres hospital, department of pediatrics, ایران, university of mazandaran, faculty of mathematics and statistics, department of statistics, ایران
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پست الکترونیکی
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faezeaghajanpour@yahoo.com
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Authors
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