A rare but treatable inborn error of metabolism: Arginine:glycine amidinotransferase (AGAT) deficiency

• मुख्य लेखकों: Sebastian Romeo Pintilie (लेखक), Adriana Fodor (लेखक), Marius Bembea (लेखक), Codruta Diana Petchesi (लेखक), Simona Grad (लेखक), Laura Damian (लेखक), Romana Vulturar (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Amaltea Medical Publishing House, 2022-05-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

AGAT deficiency is a rare and treatable autosomal recessive disorder. The symptoms are early-onset developmental mild to moderate intellectual disability, delayed speech acquisition, behavioral problems or proximal muscle weakness. Biochemical screening for creatine, creatinine and urinary guanidino...