CLINICAL AND BIOCHEMICAL ASPECTS OF CARNITINE DEFICIENCY AND INSUFFICIENCY - TRANSPORT DEFECTS AND INBORN-ERRORS OF BETA-OXIDATION

被引:38
作者
ANGELINI, C
VERGANI, L
MARTINUZZI, A
机构
[1] Regional Neuromuscular Center, Neurological Clinic, University of Padova, Padova
关键词
CARNITINE PALMITOYL-TRANSFERASE; CARNITINE-ACYL-COA DEHYDROGENASE; GLUTARIC ACIDURIA; ELECTRON TRANSFER FLAVOPROTEIN; 3-KETOACTL-COA-THIOLASE; CARNITINE DEFICIENCY AND INSUFFICIENCY; BETA-OXIDATION; FATTY ACID TRANSPORT AND OXIDATION; LCFA;
D O I
10.3109/10408369209114601
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
Carnitine is required for entry of long chain fatty acids into mitochondria where beta-oxidation occurs. Primary carnitine deficiency, due to a generic defect in cellular carnitine transport, exists in myopathic and systemic forms. Secondary carnitine deficiency may be due to multiplicity of inherited abnormalities, including deficiencies in carnitine palmitoyl-transferase acyl-CoA dehydrogenases, electron transfer flavoprotein, and 3-ketoacyl-CoA-thiolase. The clinical features, diagnosis, and treatment of these conditions are described.
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页码:217 / 242
页数:26
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  • [81] 1986, LANCET, V11, P1073