Inherited disorders of neurotransmitters in children and adults

被引：67

作者：

Pearl, PL

Capp, PK

Novotny, EJ

Gibson, KM ^{[1
]}

机构：

[1] Childrens Hosp Pittsburgh, Dept Pediat, Div Med Genet, Biochem Genet Lab, Pittsburgh, PA 15213 USA

[2] George Washington Univ, Sch Med & Hlth Sci, Childrens Natl Med Ctr, Dept Neurol, Washington, DC USA

[3] Yale Univ, Sch Med, Dept Neurol, New Haven, CT 06520 USA

[4] Childrens Hosp Pittsburgh, Dept Pathol, Div Med Genet, Biochem Genet Lab, Pittsburgh, PA 15213 USA

[5] Univ Pittsburgh, Sch Med, Pittsburgh, PA 15213 USA

来源：

CLINICAL BIOCHEMISTRY | 2005年 / 38卷 / 12期

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;

D O I：

10.1016/j.clinbiochem.2005.09.012

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

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,

引用

页码：1051 / 1058

页数：8

共 37 条

[21] CONCENTRATION GRADIENT OF CSF MONOAMINE METABOLITES IN CHILDREN AND ADOLESCENTS [J].