Journal article
Pediatric neurotransmitter diseases
Current Neurology and Neuroscience Reports, Vol.4(2), pp.147-152
03/2004
Handle:
https://hdl.handle.net/2376/107607
PMID: 14984687
Abstract
The pediatric neurotransmitter disorders represent a challenging group of rare neurometabolic disorders classified on the basis of alterations in neurotransmitter metabolic pathways. The disorders are currently classified into disturbances of monoamine and gamma-aminobutyric acid (GABA) metabolism, although disorders of other neurotransmitters, such as glutamate and melatonin, may well be recognized in future investigations. This review summarizes the clinical and laboratory features of selected pediatric neurotransmitter disorders that have been partially delineated. Of the monoamine group, these are Segawa disease or guanosine triphosphate-cyclohydrolase I deficiency, aromatic L-amino acid decarboxylase deficiency, and tyrosine hydroxylase deficiency. Of the GABA disorders, these are pyridoxine-dependent epilepsy, GABA transaminase deficiency, and succinic semialdehyde dehydrogenase deficiency. As proper collection, handling, and interpretation of cerebrospinal fluid is required for assessment of most of these disorders, we end by summarizing important considerations for obtaining cerebrospinal fluid samples.
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Details
- Title
- Pediatric neurotransmitter diseases
- Creators
- Phillip Pearl - Department of Neurology Children’s National Medical Center 111 Michigan Avenue, NW 20010-2970 Washington DC USAPhillip PearlDenise WallisK Gibson
- Publication Details
- Current Neurology and Neuroscience Reports, Vol.4(2), pp.147-152
- Academic Unit
- Pharmacotherapy, Department of
- Publisher
- Current Medicine Group; Philadelphia
- Identifiers
- 99900547746601842
- Language
- English
- Resource Type
- Journal article