Article
Two new severe mutations causing guanidinoacetate methyltransferase deficiency.
Molecular genetics and metabolism - 1 Dec 2000
Carducci C, Leuzzi V, Carducci C, Prudente S, Mercuri L, Antonozzi I
Abstract excerpt
Primary disorders of creatine metabolism have been only recently described. We report new molecular and biochemical findings obtained from a child affected by guanidinoacetate methyltransferase deficiency. This patient presented with neurological regression, epilepsy, and a movement disorder during the first year of life. HPLC analysis showed high concentrations of guanidinoacetic acid in urine, plasma, and CSF....
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