Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

JPEN. Journal of parenteral and enteral nutrition - 1 Nov 2021

İnci Aslı, Aktaş Emine, Cengiz Ergin Filiz Başak, Okur İlyas, Biberoğlu Gürsel, Ezgü Fatih Süheyl, Tümer Leyla

Abstract excerpt

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. CASE REPORT: A 4-year-old girl who was diagnosed with an F-box and leucine-rich repeat protein 4 (FBXL4)...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Acidosis, Lactic
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Diet, Ketogenic

Share to F-Box Proteins

Share to Mitochondrial Diseases

Share to Mutation

Share to Ubiquitin-Protein Ligases

Source

Identifiers

PMID: 33882172
DOI: 10.1002/jpen.2121

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The first case with FBXL4 mutation successfully treated with a parenteral ketogenic diet for lactic acidosis.PMID 33882172Read ↗

Different clinical presentation in a patient with two novel pathogenic variants of the FBXL4 gene.Semantic proximity Read ↗

Challenges in the management of an ignored cause of hyperammonemic encephalopathy: pyruvate carboxylase deficiency.Semantic proximity Read ↗

Fructose-1,6-Bisphosphatase Deficiency: A Pediatric Case ReportSemantic proximity Read ↗

FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome.Semantic proximity Read ↗

The Effects of a Ketogenic Diet on Patients with Dihydrolipoamide Dehydrogenase Deficiency.Semantic proximity Read ↗

A new phenotype of aldolase a deficiency in a 14 year-old boy with epilepsy and rhabdomyolysis - case report.Semantic proximity Read ↗

Beneficial effect of pyruvate therapy on Leigh syndrome due to a novel mutation in PDH E1α gene.Semantic proximity Read ↗

Novel mutations in a boy with dihydrolipoamide dehydrogenase deficiency.Semantic proximity Read ↗

Ketogenic diet as a successful early treatment modality for SCN2A mutationSemantic proximity Read ↗

Pyruvate Improved Insulin Secretion Status in a Mitochondrial Diabetes Mellitus Patient.Semantic proximity Read ↗

Mitochondrial Encephalopathy With Lactic Acidosis and Stroke-like Episodes (MELAS) May Respond to Adjunctive Ketogenic DietSemantic proximity Read ↗

Empagliflozin-associated postoperative mixed metabolic acidosis. Case report and review of pathogenesisSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.