Neutral lipid storage disease with myopathy: A 10-year follow-up case report
Mutations in PNPLA2 gene encoding for adipose triglyceride lipase (ATGL), involved in triglyceride degradation, lead to an inborn error of neutral lipid metabolism. The disorder that results in abnormal storage of neutral lipid is known as neutral lipid storage disease with myopathy (NLSDM). We rep...
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| Format: | Article |
| Language: | English |
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PAGEPress Publications
2022-06-01
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| Series: | European Journal of Translational Myology |
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| Online Access: | https://www.pagepressjournals.org/index.php/bam/article/view/10645 |
| _version_ | 1828729484974489600 |
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| author | Sara Missaglia Daniela Tavian Corrado Angelini |
| author_facet | Sara Missaglia Daniela Tavian Corrado Angelini |
| author_sort | Sara Missaglia |
| collection | DOAJ |
| description |
Mutations in PNPLA2 gene encoding for adipose triglyceride lipase (ATGL), involved in triglyceride degradation, lead to an inborn error of neutral lipid metabolism. The disorder that results in abnormal storage of neutral lipid is known as neutral lipid storage disease with myopathy (NLSDM). We report the follow-up of a 30-year-old woman with NLSDM, asymptomatic until age 23. At the age of 18, a high level of CPK and neutral lipid abnormal accumulation in muscle and skin cells suggested NLSDM diagnosis, afterwards confirmed by PNPLA2 analysis. After 5 years, she developed weakness in the upper and lower extremities. She was put on a low-fat diet with medium-chain triglycerides (MCT) oil supplementation but, although her CPK level decreased, myopathy continued to progress. At present, she presents severe skeletal myopathy without cardiac involvement. In this patient, no beneficial effects on progressive skeletal muscle weakness were detected after the MCT diet, probably due to complete loss of PNPLA2 expression.
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| first_indexed | 2024-04-12T14:34:05Z |
| format | Article |
| id | doaj.art-33c72635060b48e2a15d47b6ec33d629 |
| institution | Directory Open Access Journal |
| issn | 2037-7452 2037-7460 |
| language | English |
| last_indexed | 2024-04-12T14:34:05Z |
| publishDate | 2022-06-01 |
| publisher | PAGEPress Publications |
| record_format | Article |
| series | European Journal of Translational Myology |
| spelling | doaj.art-33c72635060b48e2a15d47b6ec33d6292022-12-22T03:29:10ZengPAGEPress PublicationsEuropean Journal of Translational Myology2037-74522037-74602022-06-0110.4081/ejtm.2022.10645Neutral lipid storage disease with myopathy: A 10-year follow-up case reportSara Missaglia0Daniela Tavian1Corrado Angelini2Laboratory of Cellular Biochemistry and Molecular Biology, CRIBENS, Università Cattolica del Sacro Cuore, Milan, Italy; Department of Psychology, Università Cattolica del Sacro Cuore, MilanLaboratory of Cellular Biochemistry and Molecular Biology, CRIBENS, Università Cattolica del Sacro Cuore, Milan, Italy; Department of Psychology, Università Cattolica del Sacro Cuore, MilanNeuromuscular Laboratory, Department of Neurosciences, University of Padova, Campus Biomedico Pietro d’Abano, Padua Mutations in PNPLA2 gene encoding for adipose triglyceride lipase (ATGL), involved in triglyceride degradation, lead to an inborn error of neutral lipid metabolism. The disorder that results in abnormal storage of neutral lipid is known as neutral lipid storage disease with myopathy (NLSDM). We report the follow-up of a 30-year-old woman with NLSDM, asymptomatic until age 23. At the age of 18, a high level of CPK and neutral lipid abnormal accumulation in muscle and skin cells suggested NLSDM diagnosis, afterwards confirmed by PNPLA2 analysis. After 5 years, she developed weakness in the upper and lower extremities. She was put on a low-fat diet with medium-chain triglycerides (MCT) oil supplementation but, although her CPK level decreased, myopathy continued to progress. At present, she presents severe skeletal myopathy without cardiac involvement. In this patient, no beneficial effects on progressive skeletal muscle weakness were detected after the MCT diet, probably due to complete loss of PNPLA2 expression. https://www.pagepressjournals.org/index.php/bam/article/view/10645Neutral lipid storage diseaseslipid dropletsmyopathyMCT treatment |
| spellingShingle | Sara Missaglia Daniela Tavian Corrado Angelini Neutral lipid storage disease with myopathy: A 10-year follow-up case report European Journal of Translational Myology Neutral lipid storage diseases lipid droplets myopathy MCT treatment |
| title | Neutral lipid storage disease with myopathy: A 10-year follow-up case report |
| title_full | Neutral lipid storage disease with myopathy: A 10-year follow-up case report |
| title_fullStr | Neutral lipid storage disease with myopathy: A 10-year follow-up case report |
| title_full_unstemmed | Neutral lipid storage disease with myopathy: A 10-year follow-up case report |
| title_short | Neutral lipid storage disease with myopathy: A 10-year follow-up case report |
| title_sort | neutral lipid storage disease with myopathy a 10 year follow up case report |
| topic | Neutral lipid storage diseases lipid droplets myopathy MCT treatment |
| url | https://www.pagepressjournals.org/index.php/bam/article/view/10645 |
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