Methylmalonate-Semialdehyde Dehydrogenase Deficiency With Cardiac Presentation: A Case Report With Literature Review

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.

Keywords

• Methylmalonate-semialdehyde dehydrogenase deficiency
• Cardiac disease
• ALDH6A1
• 3-Hydroxyisobutyrate
• 3-Hydroxypropionate