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a novel mutation in the bckdhb gene causes in an iranian child classic maple syrup urine disease
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نویسنده
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safdarian esmat ,galehdari hamid ,jafarian vahab ,shafee mohammad ,shariati gholamreza ,hamid mohammad ,saberi alihossein
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منبع
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zahedan journal of research in medical sciences - 2016 - دوره : 18 - شماره : 10 - صفحه:1 -0
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چکیده
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Background: maple syrup urine disease (msud) is a rare metabolic disorder caused by deficiency in branched chain alpha-keto acid dehydrogenase complex (bckd). methods: in this study, the coding regions and flanking splice sites of the bckdha, bckdhb, dbt and dld genes have been sequenced in an iranian 3 years old girl. results: anovelhomozygousmutation (p.glu330lys)wasdetected in thebckdhbgene. in silico analysisshowedsignificantchange in the 3-d protein structure. conclusions: this alteration probably affects the structure and function of the e1 subunit of bckd complex.
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کلیدواژه
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maple syrup urine disease ,inborn metabolic disorder ,amino acid metabolism
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آدرس
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university of zanjan, faculty of sciences, department of biology, iran, shahid chamran university of ahvaz, faculty of sciences, department of genetics, iran, university of zanjan, faculty of sciences, department of biology, iran, shahid chamran university of ahvaz, faculty of sciences, department of genetics, iran, narges genetics laboratory, iran, narges genetics laboratory, iran, narges genetics laboratory, iran
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Authors
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