Normalization of obstructive cardiomyopathy and improvement of hepatopathy on ketogenic diet in patient with glycogen storage disease (GSD) type IIIa.,Molecular Genetics and Metabolism Reports

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Normalization of obstructive cardiomyopathy and improvement of hepatopathy on ketogenic diet in patient with glycogen storage disease (GSD) type IIIa.
Molecular Genetics and Metabolism Reports ( IF 1.8 ) Pub Date : 2020-07-16 , DOI: 10.1016/j.ymgmr.2020.100628
Tatiana Marusic ₁ , Mojca Zerjav Tansek _{1,

2} , Andreja Sirca Campa ₁ , Ajda Mezek ₁ , Pavel Berden ₃ , Tadej Battelino _{1,

2} , Urh Groselj _{1,

2}

Affiliation

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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