INCREASED URINARY-EXCRETION OF FREE N-ACETYLNEURAMINIC ACID IN 13 PATIENTS WITH SALLA DISEASE

被引：34
作者：
RENLUND, M
CHESTER, MA
LUNDBLAD, A
AULA, P
RAIVIO, KO
AUTIO, S
KOSKELA, SL
机构：
[1] UNIV LUND HOSP, DEPT CLIN CHEM, S-22185 LUND, SWEDEN
[2] UNIV HELSINKI, PRENATAL GENET LAB, SF-00290 HELSINKI 29, FINLAND
[3] UNIV HELSINKI, CHILDRENS HOSP, SF-00290 HELSINKI 29, FINLAND
[4] CHILDRENS CASTLE HOSP, HELSINKI, FINLAND
[5] KOLPENE INST MENTALLY RETARDED, SF-96440 ROVANIEMI, FINLAND
来源：
EUROPEAN JOURNAL OF BIOCHEMISTRY | 1979年 / 101卷 / 01期
关键词：
D O I：
10.1111/j.1432-1033.1979.tb04237.x
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
Thirteen severely retarded patients with Salla disease, a new type of lysosomal storage disorder, have been studied biochemically. All patients excreted approximately ten times more free sialic acid than normal individuals. The isolated sialic acid was characterized by paper chromatography, thin‐layer chromatography, optical rotation, 13C and 1H nuclear magnetic resonance spectroscopy, and mass spectrometry of its permethylated derivative. The results clearly indicated that the excreted sialic acid was identical to N‐acetylneuraminic acid. The main sialylated trisaccharide present in the urine of the patients was identified as 3′‐sialyllactose by sugar and methylation analysis. The excreted amounts were found to be within normal range. Copyright © 1979, Wiley Blackwell. All rights reserved
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页码：245 / 250
页数：6
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