Guest guest Posted October 31, 2003 Report Share Posted October 31, 2003 J Child Neurol. 2002 Dec;17 Suppl 3:3S48-55; discussion 3S56. Related Articles, Links 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] Quote Link to comment Share on other sites More sharing options...
Recommended Posts
Join the conversation
You are posting as a guest. If you have an account, sign in now to post with your account.
Note: Your post will require moderator approval before it will be visible.