Abstract | BACKGROUND: CASE REPORT: A 4-year-old girl who was diagnosed with an F-box and leucine-rich repeat protein 4 (FBXL4) gene mutation was hospitalized with sepsis. She was first given standard parenteral nutrition (PN) because of gastrointestinal problems. During the disease course, lactic acidosis became prominent and did not respond to pharmacological treatment; standard PN was gradually switched to parenteral KD, and lactate levels decreased after parenteral KD. The patient was discharged with an enteral KD. CONCLUSION: This is the first case of mitochondrial depletion syndrome effectively treated with parenteral KD for lactic acidosis.
|
Authors | Aslı İnci, Emine Aktaş, Filiz Başak Cengiz Ergin, İlyas Okur, Gürsel Biberoğlu, Fatih Süheyl Ezgü, Leyla Tümer |
Journal | JPEN. Journal of parenteral and enteral nutrition
(JPEN J Parenter Enteral Nutr)
Vol. 45
Issue 8
Pg. 1788-1792
(11 2021)
ISSN: 1941-2444 [Electronic] United States |
PMID | 33882172
(Publication Type: Case Reports, Journal Article)
|
Copyright | © 2021 American Society for Parenteral and Enteral Nutrition. |
Chemical References |
- F-Box Proteins
- Ubiquitin-Protein Ligases
- FbxL4 protein, human
|
Topics |
- Acidosis, Lactic
(etiology, therapy)
- Child, Preschool
- Diet, Ketogenic
- F-Box Proteins
(genetics)
- Female
- Humans
- Mitochondrial Diseases
(genetics, therapy)
- Mutation
- Parenteral Nutrition
- Ubiquitin-Protein Ligases
(genetics)
|