TY - JOUR T1 - Methylmalonate-Semialdehyde Dehydrogenase Deficiency With Cardiac Presentation: A Case Report With Literature Review TT - JF - JPR JO - JPR VL - 7 IS - 1 UR - http://jpr.mazums.ac.ir/article-1-163-en.html Y1 - 2019 SP - 55 EP - 60 KW - Methylmalonate-semialdehyde dehydrogenase deficiency KW - Cardiac disease KW - ALDH6A1 KW - 3-Hydroxyisobutyrate KW - 3-Hydroxypropionate N2 - 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. M3 10.32598/jpr.7.1.55 ER -