The first case with FBXL4 mutation successfully treated with a parenteral ketogenic diet for lactic acidosis


İNCİ A., Aktas E., Cengiz Ergin F. B., OKUR İ., BİBEROĞLU G., EZGÜ F. S., ...More

JOURNAL OF PARENTERAL AND ENTERAL NUTRITION, vol.45, no.8, pp.1788-1792, 2021 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 45 Issue: 8
  • Publication Date: 2021
  • Doi Number: 10.1002/jpen.2121
  • Journal Name: JOURNAL OF PARENTERAL AND ENTERAL NUTRITION
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, CINAHL, EMBASE, International Pharmaceutical Abstracts, MEDLINE, Veterinary Science Database
  • Page Numbers: pp.1788-1792
  • Keywords: enteral ketogenic diet, lactic acidosis, mitochondrial depletion syndrome, parenteral ketogenic diet
  • Gazi University Affiliated: Yes

Abstract

Background The ketogenic diet (KD) is a low-carbohydrate, high-fat diet that has been used as an effective nonpharmacological treatment in many neurological and metabolic disorders for a long time. The effectiveness of the KD is revealed in mitochondrial disorders, mainly in pyruvate dehydrogenase deficiency.