A CASE OF GLYCOGEN-STORAGE-DISEASE TYPE-III (GLYCOGEN DEBRANCHING ENZYME DEFICIENCY) WITH LIVER-CIRRHOSIS AND HYPERTROPHIC CARDIOMYOPATHY

被引：7

作者：

KOBAYASHI, A

NISHINOMIYA, F

FUKAMACHI, Y

OHTAKA, M

YAMAMOTO, J

TAKAGI, K

TANAKA, S

TAKIZAWA, S

IMADACHI, H

FUKASE, M

SHIMIZU, Y

HAYASAKA, KO

机构：

[1] YAMAGATA UNIV, SCH MED, DEPT PEDIAT, YAMAGATA 99023, JAPAN

[2] SHOUNAI AMARUME HOSP, AMARUME 99077, JAPAN

[3] AKITA UNIV, SCH MED, DEPT PEDIAT, AKITA 010, JAPAN

[4] IMADACHI CHILDRENS CLIN, TSURUOKA, YAMAGATA 997, JAPAN

[5] SHOUNAI CITY HOSP, DEPT PATHOL, TSURUOKA, YAMAGATA 997, JAPAN

来源：

TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE | 1995年 / 176卷 / 03期

关键词：

GLYCOGEN STORAGE DISEASE; DEBRANCHING ENZYME; LIVER CIRRHOSIS;

D O I：

10.1620/tjem.176.181

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We present a 26-year-old woman with glycogen storage disease type III (debranching enzyme deficiency) complicated with liver cirrhosis and hypertrophic cardiomyopathy. Glycogen debranching enzyme has two catalytic sites, oligo-1,4,-1,4-glucantransferase (EC 2.4.1.25) and amylo-1, 6-glucosidase (EC 3.2.1.33). Variability in the clinical phenotype could be a function of the involvement of one or other catalytic site, or differences in tissue expression of the defective enzyme, or both. We hypothesize that some subtypes of glycogen storage disease (GSD) type III may cause liver cirrhosis as seen in GSD type IV due to the accumulation of glycogen of abnormal structure.

引用

页码：181 / 185

页数：5

共 8 条

[1]

CHEN YT, 1987, AM J HUM GENET, V41, P1002

[2] GLYCOGEN DEBRANCHING ENZYME DEFICIENCY - LONG-TERM STUDY OF SERUM ENZYME-ACTIVITIES AND CLINICAL-FEATURES [J].