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Summary
CREATINE DEFICIENCY, GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY
GUANIDINOACETATE METHYLTRANSFERASE GAMT DEFICIENY CREATINE-DEFICIENCY-SYNDROME
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
symptoms
ataxia
behavior, self-mutilating or destructive
dystonia
extrapyramidal signs
failure to thrive
hypotonia
infections (severe or recurrent)
learning disability
mental retardation
motor retardation
onset, infant
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/lspinal fluid
Guanidinoacetate0.000.00 increasedurineno data
Guanidinoacetate increasedserum
Creatine0.000.00 decreasedurineno data
Creatine decreasedserum
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