Ontology highlight
ABSTRACT:
SUBMITTER: Marusic T
PROVIDER: S-EPMC7371897 | biostudies-literature | 2020 Sep
REPOSITORIES: biostudies-literature
Marusic Tatiana T Zerjav Tansek Mojca M Sirca Campa Andreja A Mezek Ajda A Berden Pavel P Battelino Tadej T Groselj Urh U
Molecular genetics and metabolism reports 20200716
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. ...[more]