First presentation of LPIN1 acute rhabdomyolysis in adolescence and adulthood

Lipin-1 (LPIN1) is an 890 aminoacid intracellular protein involved in different pathways of fatty acid metabolism (1). It belongs to the family of phosphatidate phosphatase (PAP) enzymes and its main role is to catalyse the conversion of phosphatidate to diacylglycerol, the penultimate step of triglyceride synthesis which constitute the major energy storage in our body (2).

Source: Neuromuscular Disorders - May 20, 2020 Category: Neurology Authors: Chiara Pizzamiglio, Nayana Lahiri, Niranjanan Nirmalananthan, Bhrigu Sood, Subash Somalanka, Philip Ostrowski, Rahul Phadke, Dominic Gerard O'Donovan, Francesco Muntoni, Rosaline Quinlivan Tags: Case report Source Type: research