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

Background: Methylmalonate-semialdehyde Dehydrogenase Deficiency (MMSDHD) is an uncommon autosomal recessive disorder. MMSDH is an enzyme encoded by the protein coding gene ALDH۶A۱ in humans. Case Presentation: We present a ۴-year-old boy with elevated liver enzymes, ۳-hydroxyisobutyric aciduria (MMSDHD) and cardiac symptoms. He had a mutated ALDH۶A۱ gene, c.۱۸۴c>G (p.Pro۶۲Ala). Conclusions: This is one of the rare case reports in the world and the first one in Iran that reports MMSDHD with cardiac disease.

کلیدواژه ها:

Methylmalonate-semialdehyde dehydrogenase deficiency ، Cardiac disease ، ALDH۶A۱ ، ۳-Hydroxyisobutyrate ، ۳-Hydroxypropionate