Data highlighting effects of ketogenic diet on cardiomyopathy and hepatopathy in glycogen storage disease type IIIa

Marusic, Tatiana (avtor), Žerjav-Tanšek, Mojca (avtor), Širca-Čampa, Andreja (avtor), Mezek, Ajda (avtor), Berden, Pavel (avtor), Battelino, Tadej (avtor), Grošelj, Urh (avtor)

Datasets highlighting effects of ketogenic diet (KD) in a glycogen storage disease type IIIa patient is presented with the longest patient follow up report to date. Now a 15-year old girl with GSD type IIIa, diagnosed at 1 year of age, had initially introduced treatment with diet high carbohydrates, according to the recommendations. Progressively she developed left ventricular obstructive hypertrophy, hepatomegaly and skeletal myopathy. At the age of 11 years, she was introduced KD and continuous ketosis has been maintained for over 4 years providing longest reported follow up to date. KD introduction lead to a normalization of left ventricular parameters and ventricular mass and to an improvement in hepatic injury markers and decrease in liver size. We provided a table with biochemical parameters, a table providing detailed diet composition, tables with cardiac and hepatic measures and figures depicting cardiac NMR images; all the tables/figures are provided referring to the KD introduction (values prior/after). Interpretation of this data can be found in a case report article titled “Normalization of obstructive cardiomyopathy and improvement of hepatopathy on ketogenic diet in patient with glycogen storage disease (GSD) type IIIa”.

• Jezik: Angleški jezik
• Ključne besede: inborn genetic diseases, glycogen storage disease, glycogen storage disease type III, hypertrophic cardiomyopathy, ketogenic diet
• Vrsta gradiva: Članek v reviji
• Tipologija: 1.01 - Izvirni znanstveni članek
• Organizacija: MF - Medicinska fakulteta
• Status publikacije: Objavljeno
• Različica publikacije: Objavljena publikacija
• Leto izida: 2020
• Št. strani: 9 str.
• Številčenje: Vol. 32, art. 106205
• PID: 20.500.12556/RUL-138430
• UDK: 616.379
• ISSN pri članku: 2352-3409
• DOI: 10.1016/j.dib.2020.106205
• COBISS.SI-ID: 29256195
• Datum objave v RUL: 20.07.2022

Gradivo je del revije

• Naslov: Data in brief
• Založnik: Elsevier
• ISSN: 2352-3409
• COBISS.SI-ID: 32117977

Licence

• Licenca: CC BY-NC-ND 4.0, Creative Commons Priznanje avtorstva-Nekomercialno-Brez predelav 4.0 Mednarodna
• Povezava: http://creativecommons.org/licenses/by-nc-nd/4.0/deed.sl
• Opis: Najbolj omejujoča licenca Creative Commons. Uporabniki lahko prenesejo in delijo delo v nekomercialne namene in ga ne smejo uporabiti za nobene druge namene.

Projekti

• Financer: ARRS - Agencija za raziskovalno dejavnost Republike Slovenije
• Številka projekta: V3-1505
• Naslov: Analiza in razvoj področja redkih bolezni v Sloveniji

• Financer: ARRS - Agencija za raziskovalno dejavnost Republike Slovenije
• Številka projekta: P3-0343
• Naslov: Etiologija, zgodnje odkrivanje in zdravljenje bolezni pri otrocih in mladostnikih