Evaluation of long-term effectiveness of the use of carglumic acid in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA): study protocol for a randomized controlled trial

• Main Authors: Marwan Nashabat (Author), Abdulrahman Obaid (Author), Fuad Al Mutairi (Author), Mohammed Saleh (Author), Mohammed Elamin (Author), Hind Ahmed (Author), Faroug Ababneh (Author), Wafaa Eyaid (Author), Abdulrahman Alswaid (Author), Lina Alohali (Author), Eissa Faqeih (Author), Majed Aljeraisy (Author), Mohamed A. Hussein (Author), Ali Alasmari (Author), Majid Alfadhel (Author)
• Format: Book
• Published: BMC, 2019-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Introduction Propionic acidemia (PA) and methylmalonic acidemia (MMA) are rare autosomal recessive inborn errors of metabolism characterized by hyperammonemia due to N-acetylglutamate synthase (NAGS) dysfunction. Carglumic acid (Carbaglu®; Orphan Europe Ltd.) is approved by the US Food and...