| Developmental progress and creatine restoration upon long-term creatine supplementation of a patient with arginine:glycine amidinotransferase deficiency. | |
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MedLine Citation:
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PMID: 22386973 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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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 4months of age and at 14months moderate hypotonia, developmental delay and failure to thrive. Laboratory studies revealed low plasma creatine as well as extremely low levels of guanidinoacetic acid in urine and plasma. Proton magnetic resonance spectroscopy (MRS) of the brain showed absence of creatine. DNA sequence analysis revealed a homozygous mutation (c.484+1G>T) in the AGAT/GATM gene. AGAT activity was not detectable in lymphoblasts and RNA analysis revealed a truncated mRNA (r.289_484del196) that is degraded via Nonsense Mediated Decay. At 16months, Bayley's Infant Development Scale (BIDS) showed functioning at 43% of chronologic age. Oral creatine supplementation (up to 800mg/kg/day) was begun. RESULTS: At age 9years she demonstrated advanced academic performance. Partial recovery of cerebral creatine levels was demonstrated on MRS at 25months of age. Brain MRS at 40months of age revealed a creatine/NAA ratio of about 80% of that in age-matched controls. CONCLUSIONS: 8years post initiation of oral creatine supplementation, patient demonstrates superior nonverbal and academic abilities, with average verbal skills. We emphasize that early diagnosis combined with early treatment onset of AGAT deficiency may lead to improvement of developmental outcome. |
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Authors:
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Joseph D T Ndika; Kathreen Johnston; James A Barkovich; Michael D Wirt; Patricia O'Neill; Ofir T Betsalel; Cornelis Jakobs; Gajja S Salomons |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2012-1-27 |
Journal Detail:
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Title: Molecular genetics and metabolism Volume: - ISSN: 1096-7206 ISO Abbreviation: - Publication Date: 2012 Jan |
Date Detail:
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Created Date: 2012-3-5 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9805456 Medline TA: Mol Genet Metab Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2012 Elsevier Inc. All rights reserved. |
Affiliation:
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Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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