Guanidinoacetate methyltransferase deficiency
Overview
A rare disorder of amino acid metabolism where glycine and proline are unable to be metabolized properly due to deficiency of the enzyme called guanidinoacetate methyltransferase.
Symptoms
* Reduced muscle tone * Progressive extrapyramidal movement disorder * Seizures * Low creatine level
Diagnosis
signs and symptoms of Guanidinoacetate methyltransferase deficiency may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Guanidinoacetate methyltransferase deficiency symptoms.