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Summary
CEREBRAL CREATINE DEFICIENCY SYNDROME 2 CCDS2 GAMT DEFICIENCY
GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY (GAMT)
612736
OMIM = Online Medalian Inheritance of Men
382
19p13.3
  • amino acid mixture
  • arginine-restricted diet
  • creatine monohydrate
  • L-ornithine hydrochlorate
  • sodium benzoate
rare
autosomal recessive
mutation in the GAMT gene
symptoms
ataxia
behavior, self-mutilating or destructive
developmental delay
dystonia
epilepsy
extrapyramidal signs
failure to thrive
hypotonia
infections (severe or recurrent)
learning disability
mental retardation
motor retardation
onset, infancy
progressive neurologic defect
seizures
laboratory finding
Guanidinoacetate-methyltransferase1.701.9018.0023.80nmol/h/g wet weightliver
Creatinine 0.080.200.40mg/dlplasma
Creatinine0.001.008.0020.00mg/kg/24hurineinfancy
EEG abnormalities -
MRI, brain, abnormalities -
MRS, brain, abnormalities -
3-Methylglutaconic acid 0.009.00normal/increasedurine
Uric acid 0.605.50increasedserum
Creatinine 2.0027.0070.00-Ámol/lcerebrospinal fluid
Guanidinoacetate0.000.00 increasedurineno data
Guanidinoacetate increasedserum
Creatine0.000.00 decreasedurineno data
Creatine decreasedserum
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