Normalization of obstructive cardiomyopathy and improvement of hepatopathy on ketogenic diet in patient with glycogen storage disease (GSD) type IIIa

被引：12
作者：
Marusic, Tatiana [1 ]
Tansek, Mojca Zerjav [1 ,3 ]
Campa, Andreja Sirca [1 ]
Mezek, Ajda [1 ]
Berden, Pavel [2 ]
Battelino, Tadej [1 ,3 ]
Groselj, Urh [1 ,3 ]
机构：
[1] Univ Med Ctr Ljubljana, Univ Childrens Hosp, Bohoriceva Ulica 20, Ljubljana 1000, Slovenia
[2] Univ Med Ctr Ljubljana, Clin Inst Radiol, Zaloska Cesta 7, Ljubljana 1000, Slovenia
[3] Univ Ljubljana, Fac Med, Vrazov Trg 2, Ljubljana 1000, Slovenia
来源：
MOLECULAR GENETICS AND METABOLISM REPORTS | 2020年 / 24卷
关键词：
Glycogen storage disease; GSD type IIIa; Cardiomyopathy; Ketogenic diet; Case report; MANAGEMENT; DIAGNOSIS;
D O I：
10.1016/j.ymgmr.2020.100628
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Now 15-year-old girl with glycogen storage disease (GSD) type IIIa (OMIM 232400) developed severe left ventricular obstructive hypertrophy and hepatomegaly while treated with frequent cornstarch meals. Subsequently, she was introduced the ketogenic diet; continuous ketosis has been maintained for over the last 4 years. After the introduction of ketogenic diet, a normalization of the cardiomyopathy and improvement of hepatopathy was achieved, with enhanced overall quality of life.
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页数：4
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