The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results

被引：134

作者：

Wanders, Ronald J. A. ^{[1
,2
]}

Ruiter, Jos P. N. ^{[1
,2
]}

IJlst, Lodewijk ^{[1
,2
]}

Waterham, Hans R. ^{[1
,2
]}

Houten, Sander M. ^{[1
,2
]}

机构：

[1] Univ Amsterdam, Acad Med Ctr, Dept Clin Chem, Lab Genet Metab Dis,Emma Childrens Hosp, NL-1105 AZ Amsterdam, Netherlands

[2] Univ Amsterdam, Acad Med Ctr, Dept Pediat, Lab Genet Metab Dis,Emma Childrens Hosp, NL-1105 AZ Amsterdam, Netherlands

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 2010年 / 33卷 / 05期

关键词：

ACYL-COA DEHYDROGENASE; TANDEM MASS-SPECTROMETRY; CULTURED SKIN FIBROBLASTS; COENZYME-A DEHYDROGENASE; RAT-LIVER MITOCHONDRIA; TRIFUNCTIONAL PROTEIN; ENZYMATIC DIAGNOSIS; THIOLASE DEFICIENCY; TRANSLOCASE ASSAY; INBORN ERROR;

D O I：

10.1007/s10545-010-9104-8

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Oxidation of fatty acids in mitochondria is a key physiological process in higher eukaryotes including humans. The importance of the mitochondrial beta-oxidation system in humans is exemplified by the existence of a group of genetic diseases in man caused by an impairment in the mitochondrial oxidation of fatty acids. Identification of patients with a defect in mitochondrial beta-oxidation has long remained notoriously difficult, but the introduction of tandem-mass spectrometry in laboratories for genetic metabolic diseases has revolutionalized the field by allowing the rapid and sensitive analysis of acylcarnitines. Equally important is that much progress has been made with respect to the development of specific enzyme assays to identify the enzyme defect in patients subsequently followed by genetic analysis. In this review, we will describe the current state of knowledge in the field of fatty acid oxidation enzymology and its application to the follow-up analysis of positive neonatal screening results.

引用

页码：479 / 494

页数：16

共 69 条

[1] CATALYTIC DEFECT OF MEDIUM-CHAIN ACYL-COENZYME-A DEHYDROGENASE-DEFICIENCY - LACK OF BOTH COFACTOR RESPONSIVENESS AND BIOCHEMICAL HETEROGENEITY IN 8 PATIENTS [J].