Carglumic Acid Contributes to a Favorable Clinical Course in a Case of Severe Propionic Acidemia

• मुख्य लेखकों: Jun Kido (लेखक), Shirou Matsumoto (लेखक), Kimitoshi Nakamura (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Hindawi Limited, 2020-01-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

Propionic acidemia (PA) is manifested as an abnormal accumulation of propionic acid and its metabolites, including methylcitrate, 3-hydroxypropionic acid, and propionylglycine, and is caused by a defect of propionyl-CoA carboxylase. PA is complicated by acute life-threatening metabolic crises, which...