| Value of lumbar puncture in the diagnosis of infantile epilepsy and folinic acid-responsive seizures. | |
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MedLine Citation:
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PMID: 12597055 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Seizures are one of the most frequently occurring neurologic phenomena in childhood; an inborn error of metabolism should always be considered in the diagnostic workup of patients with seizures after more common causes have been excluded. Many of the known inborn metabolic errors associated with seizures can be detected by metabolite measurement in urine or blood. It is now recognized, however, that there are several conditions in which peripheral metabolite profiles remain normal. Abnormal metabolism is indicated only by the accumulation or absence of specific metabolites within the central nervous system. Some of these disorders can be detected by in vivo magnetic resonance spectroscopy. More often, an etiology can be ascertained only by analysis of specific metabolites in cerebrospinal fluid. This review describes the utility of cerebrospinal fluid metabolite analysis in the differential diagnosis of inborn errors of metabolism that lead to infantile epilepsy. These include disorders of central nervous system energy metabolism, creatine synthesis and transport, serine biosynthesis, and glucose transport, together with defects affecting the gamma-aminobutyric acid (GABA), catecholamine, and serotonin neurotransmitter systems. In addition, information is provided regarding detection of an early-onset seizure disorder that responds to folinic acid. |
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Authors:
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Keith Hyland; Lauren A Arnold |
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Publication Detail:
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Type: Journal Article; Review |
Journal Detail:
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Title: Journal of child neurology Volume: 17 Suppl 3 ISSN: 0883-0738 ISO Abbreviation: J. Child Neurol. Publication Date: 2002 Dec |
Date Detail:
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Created Date: 2003-02-24 Completed Date: 2003-05-07 Revised Date: 2005-11-16 |
Medline Journal Info:
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Nlm Unique ID: 8606714 Medline TA: J Child Neurol Country: United States |
Other Details:
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Languages: eng Pagination: 3S48-55; discussion 3S56 Citation Subset: IM |
Affiliation:
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Department of Neurochemistry, Institute of Metabolic Disease, Baylor University Medical Center, Dallas, Texas 75226, USA. k.hyland@baylorhealth.edu |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Anticonvulsants
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therapeutic use* Biogenic Amines / metabolism Biological Markers / cerebrospinal fluid Humans Infant Laboratory Techniques and Procedures Leucovorin / therapeutic use* Metabolism, Inborn Errors / cerebrospinal fluid, complications, diagnosis* Spasms, Infantile / cerebrospinal fluid*, drug therapy, etiology Spinal Puncture Treatment Outcome |
| Chemical | |
Reg. No./Substance:
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0/Anticonvulsants; 0/Biogenic Amines; 0/Biological Markers; 58-05-9/Leucovorin |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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