| Creatine and creatine deficiency syndromes: biochemical and clinical aspects. | |
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MedLine Citation:
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PMID: 20159424 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Creatine deficiency syndromes, which have only recently been described, represent a group of inborn errors of creatine synthesis (L-arginine-glycine amidinotransferase deficiency and guanidinoacetate methyltransferase deficiency) and transport (creatine transporter deficiency). Patients with creatine deficiency syndromes present with mental retardation expressive speech and language delay, and epilepsy. Patients with guanidinoacetate methyltransferase deficiency or creatine transporter deficiency may exhibit autistic behavior. The common denominator of these disorders is the depletion of the brain creatine pool, as demonstrated by in vivo proton magnetic resonance spectroscopy. For diagnosis, laboratory investigations start with analysis of guanidinoacetate, creatine, and creatinine in plasma and urine. Based on these findings, enzyme assays or DNA mutation analysis may be performed. The creatine deficiency syndromes are underdiagnosed, so the possibility should be considered in all children affected by unexplained mental retardation, seizures, and speech delay. Guanidinoacetate methyltransferase deficiency and arginine-glycine amidinotransferase deficiency are treatable by oral creatine supplementation, but patients with creatine transporter deficiency do not respond to this type of treatment. |
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Authors:
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Fahmi Nasrallah; Moncef Feki; Naziha Kaabachi |
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Publication Detail:
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Type: Journal Article; Review |
Journal Detail:
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Title: Pediatric neurology Volume: 42 ISSN: 1873-5150 ISO Abbreviation: Pediatr. Neurol. Publication Date: 2010 Mar |
Date Detail:
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Created Date: 2010-02-17 Completed Date: 2010-05-20 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8508183 Medline TA: Pediatr Neurol Country: United States |
Other Details:
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Languages: eng Pagination: 163-71 Citation Subset: IM |
Copyright Information:
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(c) 2010 Elsevier Inc. All rights reserved. |
Affiliation:
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Department of Biochemistry, Rabta Hospital, Tunis, Tunisia. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Amidinotransferases
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deficiency Amino Acid Metabolism, Inborn Errors / diagnosis* Autistic Disorder / genetics Child Creatine / blood, deficiency*, urine Epilepsy / genetics Guanidinoacetate N-Methyltransferase / genetics, metabolism Humans Membrane Transport Proteins / genetics* Mental Retardation / genetics Movement Disorders / genetics Point Mutation / genetics |
| Chemical | |
Reg. No./Substance:
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0/Membrane Transport Proteins; 0/creatine transporter; 57-00-1/Creatine; EC 2.1.1.2/GAMT protein, human; EC 2.1.1.2/Guanidinoacetate N-Methyltransferase; EC 2.1.4.-/Amidinotransferases; EC 2.1.4.1/glycine amidinotransferase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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