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

• Main Authors: Morteza Alijanpour Aghamaleki (Author), Masoomeh Rezapour (Author), Kazem Babazadeh (Author), Hassan Zamani (Author), Faeze Aghajanpour (Author)
• Format: Book
• Published: Mazandaran University of Medical Sciences, 2019-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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 (MM...