Molecular basis of Refsum disease:: Sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7)

被引：69

作者：

Jansen, GA

Waterham, HR

Wanders, RJA

机构：

[1] Univ Amsterdam, Acad Med Ctr, Lab Genet Metab Dis, Dept Clin Chem, NL-1100 DE Amsterdam, Netherlands

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

来源：

HUMAN MUTATION | 2004年 / 23卷 / 03期

关键词：

Refsum disease; RD; PEX7; PHYH; PHAX; peroxisome;

D O I：

10.1002/humu.10315

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Refsum disease has long been known to be an inherited disorder of lipid metabolism characterized by the accumulation of phytanic acid (3,7,11,15-tetramethylhexadecanoic acid) caused by an a-oxidation deficiency of this branched chain fatty acid in peroxisomes. The mechanism of phytanic acid a,oxidation and the enzymes involved had long remained mysterious, but they have been resolved in recent years. This has led to the resolution of the molecular basis of Refsum disease. Interestingly, Refsum disease is genetically heterogeneous; two genes, PHYH (also named PAHX) and PEX7, have been identified to cause Refsum disease, as reviewed in this work. (C) 2004 Wiley-Liss, Inc.

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页码：209 / 218

页数：10

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