Volume 7, Issue 1 (1-2019)                   J. Pediatr. Rev 2019, 7(1): 55-60 | Back to browse issues page

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1- Non-Communicable Pediatric Diseases Research Center, Health Research Institute, Babol University of Medical Sciences, Babol, Iran.
2- Department of Medical Sciences History, School of Traditional Medicine, Babol University of Medical Sciences, Babol, Iran.
3- Department of Pediatrics, Shahid Modarres Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
4- Department of Statistics, Faculty of Mathematics and Statistics, University of Mazandaran, Babolsar, Iran. , faezeaghajanpour@yahoo.com
Abstract:   (955 Views)
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.
Full-Text [PDF 694 kb]   (326 Downloads) |   |   Full-Text (HTML)  (160 Views)  
Type of Study: Case & Review |
Received: 2017/12/3 | Accepted: 2018/02/19 | Published: 2019/01/1

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