ArticleBMC medical genetics2014
The effect of homozygous deletion of the BBOX1 and Fibin genes on carnitine level and acyl carnitine profile.
Article in BMC medical genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 24 citations in OpenAlex.
- CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits.Nature communications · 2017Pooled it
- Biallelic variants in BBOX1 cause L-Carnitine deficiency and elevated γ-butyrobetaine.NPJ genomic medicine · 2025Article
- Brain development and bioenergetic changes.Neurobiology of disease · 2024Review
- Exploring the genetic etiology of drug-resistant epilepsy: incorporation of exome sequencing into practice.Acta neurologica Belgica · 2022Article
- Teleost Fish and Organoids: Alternative Windows Into the Development of Healthy and Diseased Brains.Frontiers in molecular neuroscience · 2022Review
- Potential Role of L-Carnitine in Autism Spectrum Disorder.Journal of clinical medicine · 2021Review
- Roots of the Malformations of Cortical Development in the Cell Biology of Neural Progenitor Cells.Frontiers in neuroscience · 2021Review
- The MT1G Gene in LUHMES Neurons Is a Sensitive Biomarker of Neurotoxicity.Neurotoxicity research · 2020Article
- The neural stem cell/carnitine malnutrition hypothesis: new prospects for effective reduction of autism risk?The Journal of biological chemistry · 2019Review
- Carnitine Inborn Errors of Metabolism.Molecules (Basel, Switzerland) · 2019Review
- L-Carnitine and Acetyl-L-carnitine Roles and Neuroprotection in Developing Brain.Neurochemical research · 2017Review
- Carnitine transport and fatty acid oxidation.Biochimica et biophysica acta · 2016Review
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
Abstract
backgroundCarnitine is a key molecule in energy metabolism that helps transport activated fatty acids into the mitochondria. Its homeostasis is achieved through oral intake, renal reabsorption and de novo biosynthesis. Unlike dietary intake and renal reabsorption, the importance of de novo biosynthesis pathway in carnitine homeostasis remains unclear, due to lack of animal models and description of a single patient defective in this pathway. CASE PRESENTATION: We identified by array comparative genomic hybridization a 42 months-old girl homozygote for a 221 Kb interstitial deletions at 11p14.2, that overlaps the genes encoding Fibin and butyrobetaine-gamma 2-oxoglutarate dioxygenase 1 (BBOX1), an enzyme essential for the biosynthesis of carnitine de novo. She presented microcephaly, speech delay, growth retardation and minor facial anomalies. The levels of almost all evaluated metabolites were normal. Her serum level of free carnitine was at the lower limit of the reference range, while her acylcarnitine to free carnitine ratio was normal.
conclusionsWe present an individual with a completely defective carnitine de novo biosynthesis. This condition results in mildly decreased free carnitine level, but not in clinical manifestations characteristic of carnitine deficiency disorders, suggesting that dietary carnitine intake and renal reabsorption are sufficient to carnitine homeostasis. Our results also demonstrate that haploinsufficiency of BBOX1 and/or Fibin is not associated with Primrose syndrome as previously suggested.
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Registered trials
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