Seizures, Retardation, and Creatine Synthesis Defect

Abstract

Two unrelated boys, aged 2 and 5 years, with psychomotor retardation, hyperactive behavior, and epilepsy, associated with a creatine synthesis defect, are reported from Free University Hospital, Amsterdam, The Netherlands.

Keywords

• psychomotor retardation
• creatine synthesis defect
• serum creatinine