Niemann-Pick disease type C and defective peroxisomal β-oxidation of branched-chain substrates

被引：8

作者：

Sequeira, JSS

Vellodi, A

Vanier, MT

Clayton, PT

机构：

[1] Inst Child Hlth, Biochem Unit, London WC1N 1EH, England

[2] Great Ormond St Hosp Children, London WC1N 3JH, England

[3] Fdn Gillet Merieux, Lyon Sud Med Sch, Pierre Benite, France

[4] Lyon Sud Med Sch & Hosp, Fdn Gillet Merieux, Pierre Benite, France

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1998年 / 21卷 / 02期

关键词：

D O I：

10.1023/A:1005395709826

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

An 18-month-old infant presented with hypotonia, motor delay, hepatosplenomegaly, rickets and steatorrhoea. Biochemical investigations revealed typical features of Niemann-Pick disease type C. In addition, there was evidence of defective peroxisomal beta-oxidation of branched-chain substrates (3 alpha,7 alpha,12 alpha-trihydroxycholestanoic acid and pristanic acid). The steatorrhoea and fat-soluble vitamin malabsorption responded well to bile acid therapy. Possible causes for the double defect are considered.

引用

页码：149 / 154

页数：6

共 13 条

[1]

Allen J. T., 1996, Journal of Inherited Metabolic Disease, V19, P79

[2] Niemann-Pick C1 disease gene: Homology to mediators of cholesterol homeostasis [J].

Carstea, ED ;

Morris, JA ;

Coleman, KG ;

Loftus, SK ;

Zhang, D ;

Cummings, C ;

Gu, J ;

Rosenfeld, MA ;

Pavan, WJ ;

Krizman, DB ;

Nagle, J ;

Polymeropoulos, MH ;

Sturley, SL ;

Ioannou, YA ;

Higgins, ME ;

Comly, M ;

Cooney, A ;

Brown, A ;

Kaneski, CR ;

BlanchetteMackie, EJ ;

Dwyer, NK ;

Neufeld, EB ;

Chang, TY ;

Liscum, L ;

Strauss, JF ;

Ohno, K ;

Zeigler, M ;

Carmi, R ;

Sokol, J ;

Markie, D ;

ONeill, RR ;

vanDiggelen, OP ;

Elleder, M ;

Patterson, MC ;

Brady, RO ;

Vanier, MT ;

Pentchev, PG ;

Tagle, DA .

SCIENCE, 1997, 277 (5323) :228-231

[3] A NEW PEROXISOMAL DISORDER - DIHYDROXYCHOLESTANAEMIA AND TRIHYDROXYCHOLESTANAEMIA DUE TO A PRESUMED TRIHYDROXYCHOLESTANOYL-COA OXIDASE DEFICIENCY [J].

CHRISTENSEN, E ;

VANELDERE, J ;

BRANDT, NJ ;

SCHUTGENS, RBH ;

WANDERS, RJA ;

EYSSEN, HJ .

JOURNAL OF INHERITED METABOLIC DISEASE, 1990, 13 (03) :363-366

[4] INBORN-ERRORS OF BILE-ACID METABOLISM [J].

CLAYTON, PT .

JOURNAL OF INHERITED METABOLIC DISEASE, 1991, 14 (04) :478-496

[5] Ataxia associated with increased plasma concentrations of pristanic acid, phytanic acid and C-27 bile acids but normal fibroblast branched-chain fatty acid oxidation [J].

Clayton, PT ;

Johnson, AW ;

Mills, KA ;

Lynes, GW ;

Wilson, J ;

Casteels, M ;

Mannaerts, G .

JOURNAL OF INHERITED METABOLIC DISEASE, 1996, 19 (06) :761-768

[6]

PENTCHEV PG, 1995, METABOLIC MOL BASES, P2625

[7]

PRYZREMBEL H, 1990, J INHERIT METAB DIS, V13, P371

[8]

SEEDORF U, 1994, J BIOL CHEM, V269, P21277

[9] COMPLEMENTATION STUDIES IN NIEMANN-PICK DISEASE TYPE-C INDICATE THE EXISTENCE OF A 2ND GROUP [J].

STEINBERG, SJ ;

WARD, CP ;

FENSOM, AH .

JOURNAL OF MEDICAL GENETICS, 1994, 31 (04) :317-320

[10] TYPE-C NIEMANN-PICK DISEASE - SPECTRUM OF PHENOTYPIC VARIATION IN DISRUPTION OF INTRACELLULAR LDL-DERIVED CHOLESTEROL PROCESSING [J].

VANIER, MT ;

RODRIGUEZLAFRASSE, C ;

ROUSSON, R ;

GAZZAH, N ;

JUGE, MC ;

PENTCHEV, PG ;

REVOL, A ;

LOUISOT, P .

BIOCHIMICA ET BIOPHYSICA ACTA, 1991, 1096 (04) :328-337

← 1 2 →