OMIM = Online Medalian Inheritance of Men
  • amino acid mixture
  • arginine-restricted diet
  • creatine monohydrate
  • L-ornithine hydrochlorate
  • sodium benzoate
autosomal recessive
mutation in the GAMT gene
basal ganglia, changes, lesions, calcifications (MRI, CT)
behavior, autism or autistic-like
behavior, self-mutilating or destructive
developmental delay
extrapyramidal signs
failure to thrive
infections (severe or recurrent)
learning disability
mental retardation
motor retardation
onset, infancy
progressive neurologic defect
speech development, delayed, abnormal
laboratory finding
Guanidinoacetate-methyltransferase1.701.9018.0023.80nmol/h/g wet weightliver
Creatinine0.001.008.0020.00mmol/mol creatinineurine
EEG abnormalities -
MRI, brain, abnormalities -
MRS, brain, abnormalities -
3-Methylglutaconic acid50.00250.000.009.00mmol/mol creatinineurine
Uric acid 120.00350.00increasedserum
Creatinine 2.0027.0070.00-Ámol/lcerebrospinal fluid
Guanidinoacetic acid / Guanidinoacetate200.00800.00 mmol/mol creatinineurine
Guanidinoacetic acid / Guanidinoacetate increasedserum
Creatine0.0050.00 mmol/mol creatinineurine
Creatine1.0050.00 +€mol/lserum
Creatine1.0016.00 -Ámol/lcerebrospinal fluid
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