Pediatric neurotransmitter diseases
- 167 Downloads
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.
Unable to display preview. Download preview PDF.
References and Recommended Reading
- 1.DeVivo DC, Johnston MV (eds): Pediatric neurotransmitter disorders. Ann Neurol 2003, 53(supp):1–109. Monograph devoted to clinical and basic science aspects of the PNDs, representing proceedings of a symposium held during May 2002 and cosponsored by the Pediatric Neurotransmitter Diseases Association and the National Institutes of Health.Google Scholar
- 4.Nikhar NK, Mani H: Dopamine responsive dystonia. eMedicine. November, 2001.Google Scholar
- 7.Segawa M, Nomura Y, Kase M: Diurnally fluctuating hereditary progessive dystonia. In Handbook of Clinical Neurology: Extrapyramidal Disorders, vol 5. Edited by Vinken PJ, Bruyn GW, Klawans HL. Amsterdam: Elsevier; 1986:529–539.Google Scholar
- 31.Gibson KM, Jakobs C: Disorders of beta- and gamma-amino acids in free and peptide linked forms. In The Metabolic and Molecular Bases of Inherited Disease, edn 8. Edited by Scriver CR, Beaudet AL, Valle D, Sly WS. New York: McGrw-Hill; 2000:2079–2105. Comprehensive discussion of GABA metabolism and associated disorders.Google Scholar
- 33.Gibson KM, Hoffman G: Acidemia, gamma-hydroxybutyric. In Birth Defects Encyclopedia. Edited by Buyse ML. Cambridge, MA: Blackwell Scientific; 1990:17–18.Google Scholar