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.
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.
