Metabolomics in Lipoid Proteinosis

Background: Lipoid proteinosis (LP) is an autosomal recessive transfer lysosomal storage disease that is characterized by the accumulation of hyalin substance in the mucous membranes, skin, internal organs, and brain. Thus far, no biochemical diagnostic method has been identified. Objective: The aim of this study was to determine the carnitine and acylcarnitine metabolic profiles of LP patients and to examine the potential of LC-MS/MS as a new biochemical method for the identification of biochemical markers. Methods: In this study, 27 carnitine and acylcarnitine esters were measured with LCMS/ MS in serum samples taken from 14 healthy control subjects and 14 patients. The patients, who presented at the Skin and Venereal Diseases Polyclinic, were diagnosed with LP on the basis of clinical, radiological, and histopathological examinations. Results: The results of the study showed that the C0 (free carnitine) C3, C4, C4:DC, C5DC, C6, C8, C14:1, C14:2, C16, and C18 acylcarnitines were statistically significantly reduced in the LP patients (p < 0.05, p < 0.01). Conclusion: It was concluded that the application of carnitine profile screening, an inexpensive, rapid, and reliable method, as a supporting laboratory test could make a contribution to the differential diagnosis for individuals with suspected LP.