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

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

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...

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Bibliographic Details
Main Authors: Sebastian Romeo Pintilie, Adriana Fodor, Marius Bembea, Codruta Diana Petchesi, Simona Grad, Laura Damian, Romana Vulturar
Format: Article
Language:English
Published: Amaltea Medical Publishing House 2022-05-01
Series:Romanian Journal of Pediatrics
Subjects:
agat
gamt
crtr
creatine deficiency syndromes
intellectual disability
language delay
creatine-phosphocreatine system
Online Access:https://rjp.com.ro/articles/2021.3/RJP_2021_3_Art-04.pdf

Internet

https://rjp.com.ro/articles/2021.3/RJP_2021_3_Art-04.pdf

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