Title of article
Methylmalonate-Semialdehyde Dehydrogenase Deficiency With Cardiac Presentation: A Case Report With Literature Review
Author/Authors
Zamani Hassan Ali نويسنده Department of Applied Chemistry, Islamic Azad University, Quchan branch, Quchan, Iran , Babazadeh Kazem نويسنده Non-Communicable Pediatric Diseases Research Center, Babol University of Medical Sciences, Babol, Iran. , Alijanpour Aghamaleki Morteza نويسنده Non-Communicable Pediatric Diseases Research Center, Health Research Institute, Babol University of Medical Sciences, Babol, Iran. , Rezapour Masoomeh نويسنده Department of Medical Sciences History, School of Traditional Medicine, Babol University of Medical Sciences, Babol, Iran. , Aghajanpour Faeze نويسنده Department of Statistics, Faculty of Mathematics and Statistics, University of Mazandaran, Babolsar, Iran.
Pages
6
From page
55
To page
60
Abstract
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.
Journal title
Astroparticle Physics
Serial Year
2019
Record number
2412020
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