Guanidinoacetate methyltransferase (GAMT) deficiency is a disorder of creatine biosynthesis, characterized by early-onset learning disability and epilepsy in most affected children. Severe expressive language delay is a constant feature even in the mildest clinical phenotypes. We report the clinical, biochemical, imaging, and treatment data of two…

This case study reports on the language development of a child with severe speech and multiple handicaps resulting from "severe epileptic encephalopathy" who is, however, able to competently read, write, and comprehend two languages (English and Cantonese) but does not initiate conversations. Data were gathered as a result of weekly home visits…