ArticleJIMD reports2016
Cerebral Lipid Accumulation Detected by MRS in a Child with Carnitine Palmitoyltransferase 2 Deficiency: A Case Report and Review of the Literature on Genetic Etiologies of Lipid Peaks on MRS.
Article in JIMD reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 11 citations in OpenAlex.
- Weak neuronal glycolysis sustains cognition and organismal fitness.Nature metabolism · 2024Article
- ClinicalNeuroradiology · 2022Review
- MR Neuroimaging in Pediatric Inborn Errors of Metabolism.Diagnostics (Basel, Switzerland) · 2022Review
- Inborn errors of metabolism.Handbook of clinical neurology · 2019Review
- Metabolic Evaluation of Epilepsy: A Diagnostic Algorithm With Focus on Treatable Conditions.Frontiers in neurology · 2018Review
- Article
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The majority of lipids in the brain are located in the bilayer membranes. These lipids are not visible by magnetic resonance spectroscopy since they have restricted mobility. Only mobile lipids, such as cholesterol esters or triglycerides in neutral lipid droplets, have enough rotational freedom to generate a signal on spectroscopy. These signals are detected as peaks at 1.3 ppm, originating from the methylene groups in the fatty acid chain, and 0.9 ppm, originating from the distal methyl group. We review the literature on the different genetic conditions that have been found to show lipid peaks on brain spectroscopy and report the first patient with carnitine palmitoyltransferase 2 deficiency shown to have such lipid peaks, thus indicating brain fat accumulation.
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Registered trials
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