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

• Autori principali: Morteza Alijanpour Aghamaleki (Autore), Masoomeh Rezapour (Autore), Kazem Babazadeh (Autore), Hassan Zamani (Autore), Faeze Aghajanpour (Autore)
• Natura: Libro
• Pubblicazione: Mazandaran University of Medical Sciences, 2019-01-01T00:00:00Z.
• Soggetti: article
• Accesso online: 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...