Preprint Article Version 1 This version is not peer-reviewed

Determination of the Carnitine and Acylcarnitine Profile in Patients with Lipoid Proteinosis

Version 1 : Received: 15 January 2019 / Approved: 17 January 2019 / Online: 17 January 2019 (13:05:31 CET)

How to cite: Gönel, A.; Koyuncu , I..; Aksoy, M.; Celik, H. Determination of the Carnitine and Acylcarnitine Profile in Patients with Lipoid Proteinosis. Preprints 2019, 2019010181 (doi: 10.20944/preprints201901.0181.v1). Gönel, A.; Koyuncu , I..; Aksoy, M.; Celik, H. Determination of the Carnitine and Acylcarnitine Profile in Patients with Lipoid Proteinosis. Preprints 2019, 2019010181 (doi: 10.20944/preprints201901.0181.v1).

Abstract

Background and objectives: Lipoid proteinosis (LP) is an autosomal recessive transfer lysosomal storage disease, characterised by the accumulation of hyalin substance in the mucous membranes, skin, internal organs and brain, for which there is no biochemical diagnostic method. The aim of this study was to determine the carnitine and acylcarnitine metabolic profile with LC-MS/MS in LP patients and thereby examine the potential of this as a new biochemical method in the determination of biochemical markers in LP patients. Materials and Methods: In this study, 27 carnitine and acylcarnitine esters were measured with LC-MS/MS in serum samples taken from 14 healthy control subjects and 14 patients who presented at the Skin and Venereal Diseases Polyclinic and were diagnosed with LP as a result of clinical, radiological and histopathological examinations. Results: The results of the study showed that 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). Conclusions: It was concluded that the application of carnitine profile screening, which is an inexpensive, rapid and reliable method, could make a contribution to the differential diagnosis as aa supporting laboratory test in individuals with suspected LP.

Subject Areas

LC-MS/MS; Lipoid proteinosis; Carnitine; Acylcarnitine

Readers' Comments and Ratings (1)

Comment 1
Received: 19 January 2019
Commenter: Muhammad Shahzad Aslam (Click to see Publons profile: )
The commenter has declared there is no conflict of interests.
Comment: There are few abbreviation written in not appropriate way.
free carnitine and acylcarnitine esters were measured (C0, C2, C3, C4, C4DC, C5, C5:1,
C5OH, C5DC, C6, C6DC, C8, C8:1, C8DC, C10, C10:1, C10DC, C12, C14, C14:1, C14:2, C16, C16:1, C18,
C18:1, C18:2, C18:1 OH)
There must be indication of full name of these acylcarnitines
Kindy check your methodology as mentioned" In this study, 27
carnitine and acylcarnitine esters were measured with LC-MS/MS in serum samples taken from 14
healthy control subjects and 14 patients who presented at the Skin and Venereal Diseases Polyclinic
and were diagnosed with LP as a result of clinical, radiological and histopathological examinations"

I couldn't find LC/MS spectra. Kindly include this as well.
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