期刊
CLINICAL BIOCHEMISTRY
卷 38, 期 12, 页码 1051-1058出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.clinbiochem.2005.09.012
关键词
neurotransmitter; serotonin; biopterin; phenylalanine; Segawa disease; GTP cyclohydrolase; tyrosine hydroxylase; L-aromatic amino acid decarboxylase; folate; non-ketotic hyperglycinemia; glycine encephalopathy; pyridoxine; pyridoxal-5 '-phosphate; pipecolic acid; GABA; GABA-transaminase; gammahydroxybutyric acid; succinate semialdehyde dehydrogenase; lumbar puncture; pediatric neurotransmitter diseases
资金
- NINDS NIH HHS [NS40270, NS038175] Funding Source: Medline
Inherited disorders of neurotransmitters are a group of neurometabolic syndromes attributable to a primary disturbance of neurotransmitter metabolism or transport. This is an enlarging group of recognized disorders requiring specialized diagnostic procedures for detection. This review considers clinical disorders of biopterin, catecholamines, serotonin, glycine, pyridoxine, and GABA metabolism. Newly described syndromes Such as cerebral folate deficiency and pyridoxal-5-phosphate dependency are included. The disorders of the metabolic pathways of biopterin, catecholamines, and serotonin are linked due to their common synthetic components. Glycine encephalopathy represents,in enlarging phenotype related to abnormalities of the glycine degradative cleavage system. Both pyridoxine and pyridoxal-5-phosphate dependency need to be considered in refractory neonatal seizures. Tire most common disorder of GABA metabolism is SSADH deficiency, which has a broad phenotype of mental retardation, epilepsy, ataxia, and hyporeflexia and which invokes the combined problems of elevated brain GABA and GHB. (C) 2005 Tire Canadian Society of Clinical Chemists. All rights reserved,
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