Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotypic expression of the disease.
Arginine:glycine amidinotransferase deficiency is a treatable inborn error of creatine synthesis, characterized by mental retardation, language impairment, and behavioral disorders. We describe a patient in whom arginine:glycine amidinotransferase was diagnosed at birth and treated at 4 months with creatine supplementation. In contrast with his 2 older sisters, he had normal psychomotor development at 18 months.
Battini
Roberta
R
Department of Developmental Neuroscience, IRCCS Stella Maris, Calambrone (Pisa), Italy.
Alessandrì
M Grazia
MG
Leuzzi
Vincenzo
V
Moro
Francesca
F
Tosetti
Michela
M
Bianchi
Maria C
MC
Cioni
Giovanni
G
D000579:Amidinotransferases / Q000172:deficiency* / Q000235:genetics; D001942:Breast Feeding; D003401:Creatine / Q000032:analysis / Q000096:biosynthesis / Q000627:therapeutic use*; D019587:Dietary Supplements; D006801:Humans; D007231:Infant, Newborn; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D001523:Mental Disorders / Q000209:etiology / Q000628:therapy; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000235:genetics / Q000628:therapy*; D008895:Milk, Human / Q000737:chemistry; D009154:Mutation; D010641:Phenotype; D011597:Psychomotor Performance; D013997:Time Factors
D000579:Amidinotransferases; C020681:glycine amidinotransferase; D003401:Creatine