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

• Main Authors: Sebastian Romeo Pintilie (Author), Adriana Fodor (Author), Marius Bembea (Author), Codruta Diana Petchesi (Author), Simona Grad (Author), Laura Damian (Author), Romana Vulturar (Author)
• Format: Book
• Published: Amaltea Medical Publishing House, 2022-05-01T00:00:00Z.
• Subjects: article
• Online Access: 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...