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

Tatiana Marusic; Mojca Zerjav Tansek; Andreja Sirca Campa; Ajda Mezek; Pavel Berden; Tadej Battelino; Urh Groselj

doi:10.1016/j.ymgmr.2020.100628

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

Mol Genet Metab Rep. 2020 Jul 16:24:100628. doi: 10.1016/j.ymgmr.2020.100628. eCollection 2020 Sep.

Authors

Tatiana Marusic¹, Mojca Zerjav Tansek^{1

2}, Andreja Sirca Campa¹, Ajda Mezek¹, Pavel Berden³, Tadej Battelino^{1

2}, Urh Groselj^{1

2}

Affiliations

¹ University Children's Hospital, University Medical Center Ljubljana, Bohoričeva ulica 20, Ljubljana, Slovenia.
² Faculty of Medicine, University of Ljubljana, Vrazov trg 2, 1000 Ljubljana, Slovenia.
³ Clinical Institute of Radiology, University Medical Center Ljubljana, Zaloška cesta 7, 1000 Ljubljana, Slovenia.

Abstract

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.

Keywords: CK, Creatine kinase; Cardiomyopathy; Case report; GSD type IIIa; GSD, Glycogen Storage Disease; Glycogen storage disease; KB, Ketone bodies; KD, Ketogenic diet; Ketogenic diet; LVMI, Left Ventricular Mass Index; MAD, Modified Atkins Diet; MRI, Magnetic Resonance Imaging; proBNP, pro-Brain-Type Natriuretic Peptide.