Schuermans et al. report phospholipase A and acyltransferase 3 (PLAAT3) deficiency in patients with lipodystrophy and peripheral neuropathy. Their discovery adds to the growing list of genetic lipodystrophies due to deficiencies of enzymes involved in phospholipid biosynthesis, including 1-acylglycerol-3-phosphate O-acyltransferase 2 and choline phosphate cytidylyltransferase 1 A.
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The authors thank Tea Huseinbegovic (UT Southwestern) and Mary Tunison (UT Southwestern) for preparing the original version of the figure.
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Agarwal, A.K., Garg, A. Phospholipid biosynthetic pathways and lipodystrophies: a novel syndrome due to PLAAT3 deficiency. Nat Rev Endocrinol 20, 128–129 (2024). https://doi.org/10.1038/s41574-023-00950-0
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DOI: https://doi.org/10.1038/s41574-023-00950-0
