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CEREBRAL CREATINE DEFICIENCY SYNDROME 3 (GAMT, AGAT DEFICIENCY)

CEREBRAL CREATINE DEFICIENCY SYNDROME 3 (GAMT, AGAT DEFICIENCY)
CREATINE-DEFICIENCY-SYNDROME
612718
OMIM = Online Mendelian Inheritance of Men
35704
arginine:glycine amidinotransferase
2.1.4.1
15q15.3
E72.8
very rare
autosomal recessive
mutation in the GATM gene
Laboratory findings    Creatine normal/dec (urine)
    Creatine normal/dec (plasma)
    Creatine/creatinine ratio dec (urine)
    Creatinine dec (urine)
    Guanidinoacetic acid / Guanidinoacetate dec (plasma)
    Guanidinoacetic acid / Guanidinoacetate dec (urine)
Symptoms  speech development, delayed, abnormal
   behavior, autism or autistic-like
   developmental delay
   epilepsy
   failure to thrive
    abnormal movement
    EEG abnormalities [-]
    intellectual disability/intellectual developmental disorder
    mental retardation
    motor retardation
    muscle weakness
    onset, infancy
    seizures