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J Child Neurol. 2002 Dec;17 Suppl 3:3S48-55; discussion 3S56. Related Articles,

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Value of lumbar puncture in the diagnosis of infantile epilepsy and folinic

acid-responsive seizures.

Hyland K, Arnold LA.

Department of Neurochemistry, Institute of Metabolic Disease, Baylor University

Medical Center, Dallas, Texas 75226, USA. k.hyland@...

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.

Publication Types:

Review

Review, Tutorial

PMID: 12597055 [PubMed - indexed for MEDLINE]

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