Article
Developmental progress and creatine restoration upon long-term creatine supplementation of a patient with arginine:glycine amidinotransferase deficiency.
Molecular genetics and metabolism - 1 May 2012
Ndika Joseph D T, Johnston Kathreen, Barkovich James A, Wirt Michael D, O'Neill Patricia, Betsalel Ofir T, Jakobs Cornelis, Salomons Gajja S
Abstract excerpt
BACKGROUND: Arginine:glycineamidinotransferase (AGAT/GATM) deficiency has been described in 9 patients across 4 families. Here we describe the clinical outcome and response to creatine supplementation in a patient of the second family affected with AGAT deficiency-a 9-year-old girl. PATIENT AND METHODS: Delayed motor milestones were noticed from 4 months of age and at 14 months moderate hypotonia, developmental...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.