Article
Guanidinoacetate methyltransferase (GAMT) deficiency in two Tunisian siblings: clinical and biochemical features.
Clinical laboratory - 1 Jan 2012
Nasrallah Fahmi, Kraoua Ichraf, Joncquel-Chevalier Curt Marie, Bout Marie-Adelaïde, Taieb Sameh Hadj, Feki Moncef, Khouja Néziha, Briand Gilbert, Kaabachi Naziha
Abstract excerpt
BACKGROUND: Guanidinoacetate methyltransferase (GAMT) deficiency is a recently described disorder and few cases have been reported to date. As it is a treatable pathology, we seek to contribute to its better understanding, particularly to further elucidate its biochemical diagnosis for early treatment. METHODS: The patients, two brothers aged 13 years (P1) and 11 years (P2), have been explored for signs and...
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