Abstract

This work was aimed to implement a fast and simple method to quantify cholesterol (CHOL) and 7-dehydrocholesterol (7-DHC) in dried blood spot (DBS) to diagnose the Smith-Lemli-Opitz syndrome (SLOS), an inborn error of CHOL biosynthesis. We developed and validated a GC-FID method for separation and quantification of underivatized CHOL and 7-DHC using a DBS disc of 6 mm with a run time of 9. min. Correlation coefficients (r) of calibration curves ranged from 0.998 to 0.999 for CHOL and from 0.997 to 0.998 for 7-DHC. Within-day and between-day imprecision (CV%), accuracy (%), carry-over, and extraction efficacy (%) were also evaluated for validation. CHOL and 7-DHC were analyzed in DBS and plasma samples from 8 SLOS patients and 30 unaffected subjects. In SLOS patients, 7-DHC/CHOL ratios in DBS and plasma samples ranged from 0.035 to 1.448 and from 0.012 to 0.926, respectively. Results from calibration curves, quality controls and patient samples reveal that the method is suitable to analyze DBS to screen patients affected by SLOS.

Autore Pugliese

• Corso Gaetano

Tutti gli autori

• Gelzo M , Clericuzio S , Barone R , D’Apolito O , Dello Russo A , Corso G.

Titolo volume/Rivista

JOURNAL OF CHROMATOGRAPHY. B

Anno di pubblicazione

2012

ISSN

1570-0232

ISBN

Non Disponibile

Numero di citazioni Wos

6

Ultimo Aggiornamento Citazioni

Non Disponibile

Numero di citazioni Scopus

6

Ultimo Aggiornamento Citazioni

Non Disponibile

Settori ERC

Non Disponibile

Codici ASJC

Non Disponibile