SIALIC-ACID STORAGE DISORDERS - OBSERVATIONS ON CLINICAL AND BIOCHEMICAL VARIATION

被引：23

作者：

MANCINI, GMS

VERHEIJEN, FW

BEERENS, CEMT

RENLUND, M

AULA, P

机构：

[1] UNIV TURKU,DEPT MED GENET,KIINAMYLLYNKATU 10,SF-20520 TURKU 52,FINLAND

[2] ERASMUS UNIV,DEPT CELL BIOL & GENET,3000 DR ROTTERDAM,NETHERLANDS

[3] UNIV HELSINKI,DEPT OBSTET & GYNECOL,SF-00100 HELSINKI 10,FINLAND

来源：

DEVELOPMENTAL NEUROSCIENCE | 1991年 / 13卷 / 4-5期

关键词：

SIALIC ACID STORAGE; SALLA DISEASE; INFANTILE SIALIC ACID STORAGE DISEASE;

D O I：

10.1159/000112181

中图分类号：

Q [生物科学];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Lysosomal accumulation of free sialic acid results in two phenotypically distinct inherited metabolic disorders, Salla disease and infantile sialic acid storage disease. Clinical and biochemical findings in both diseases are reviewed. Recent studies indicate that sialic acid storage is a consequence of defective function of a lysosomal membrane transport system specific for sialic acid and some other acidic monosaccharides.

引用

收藏

页码：327 / 330

页数：4

相关论文

共 27 条

[1]

AULA P, 1986, J MENT DEFIC RES, V30, P365

[2] SALLA DISEASE - NEW LYSOSOMAL STORAGE DISORDER [J].

AULA, P ;

AUTIO, S ;

RAIVIO, KO ;

RAPOLA, J ;

THODEN, CJ ;

KOSKELA, SL ;

YAMASHINA, I .

ARCHIVES OF NEUROLOGY, 1979, 36 (02) :88-94

[3] NEUROPATHOLOGY OF SALLA DISEASE [J].

AUTIOHARMAINEN, H ;

OLDFORS, A ;

SOURANDER, P ;

RENLUND, M ;

DAMMERT, K ;

SIMILA, S .

ACTA NEUROPATHOLOGICA, 1988, 75 (05) :481-490

[4]

BAUMKOTTER J, 1985, HUM GENET, V71, P155

[5] DEFECTIVE GLUCURONIC-ACID TRANSPORT FROM LYSOSOMES OF INFANTILE FREE SIALIC-ACID STORAGE DISEASE FIBROBLASTS [J].

BLOM, HJ ;

ANDERSSON, HC ;

SEPPALA, R ;

TIETZE, F ;

GAHL, WA .

BIOCHEMICAL JOURNAL, 1990, 268 (03) :621-625

[6] SALLA DISEASE IN ONE NON-FINNISH PATIENT [J].

ECHENNE, B ;

VIDAL, M ;

MAIRE, I ;

MICHALSKI, JC ;

BALDET, P ;

ASTRUC, J .

EUROPEAN JOURNAL OF PEDIATRICS, 1986, 145 (04) :320-322

[7] FREE SIALIC-ACID STORAGE DISEASE - A NEW ITALIAN CASE [J].

FOIS, A ;

BALESTRI, P ;

FARNETANI, MA ;

MANCINI, GMS ;

BORGOGNI, P ;

MARGOLLICCI, MA ;

MOLINELLI, M ;

ALESSANDRINI, C ;

GERLI, R .

EUROPEAN JOURNAL OF PEDIATRICS, 1987, 146 (02) :195-198

[8]

FONTAINE G, 1968, HELV PAEDIATR ACTA, V23, P1

[9] GENERALIZED N-ACETYLNEURAMINIC ACID STORAGE DISEASE - QUANTITATION AND IDENTIFICATION OF THE MONOSACCHARIDE ACCUMULATING IN BRAIN AND OTHER TISSUES [J].

HANCOCK, LW ;

THALER, MM ;

HORWITZ, AL ;

DAWSON, G .

JOURNAL OF NEUROCHEMISTRY, 1982, 38 (03) :803-809

[10] OLIGOSACCHARIDES IN URINE OF PATIENTS WITH GLYCOPROTEIN STORAGE DISEASES .1. RAPID DETECTION BY THIN-LAYER CHROMATOGRAPHY [J].

HUMBEL, R ;

COLLART, M .

CLINICA CHIMICA ACTA, 1975, 60 (02) :143-145