دوره 7، شماره 1 - ( 10-1397 )                   جلد 7 شماره 1 صفحات 55-60 | برگشت به فهرست نسخه ها


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Alijanpour Aghamaleki M, Rezapour M, Babazadeh K, Zamani H, Aghajanpour F. Methylmalonate-Semialdehyde Dehydrogenase Deficiency With Cardiac Presentation: A Case Report With Literature Review. J. Pediatr. Rev. 2019; 7 (1) :55-60
URL: http://jpr.mazums.ac.ir/article-1-163-fa.html
Methylmalonate-Semialdehyde Dehydrogenase Deficiency With Cardiac Presentation: A Case Report With Literature Review. Journal of Pediatrics Review. 1397; 7 (1) :55-60

URL: http://jpr.mazums.ac.ir/article-1-163-fa.html


چکیده:   (319 مشاهده)
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.
متن کامل [PDF 704 kb]   (91 دریافت)    
نوع مطالعه: Case & Review |
دریافت: ۱۳۹۶/۹/۱۲ | پذیرش: ۱۳۹۶/۱۱/۳۰ | انتشار: ۱۳۹۷/۱۰/۱۱

فهرست منابع
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