A Multiplex Phytosterol Assay Utilizing Gas Chromatography-Mass Spectrometry for Diagnosis of Inherited Lipid Storage Disorders

doi:10.3343/alm.2019.39.4.411

. 2019 Jul;39(4):411-413.

doi: 10.3343/alm.2019.39.4.411.

A Multiplex Phytosterol Assay Utilizing Gas Chromatography-Mass Spectrometry for Diagnosis of Inherited Lipid Storage Disorders

Joon Hee Lee^{1

2}, Kyunghoon Lee^{1

3}, Sun Hee Jun³, Sang Hoon Song^{1

2}, Choong Ho Shin⁴, Junghan Song^{1

5}

Affiliations

¹ Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Korea.
² Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Korea.
³ Department of Laboratory Medicine, Seoul National University Bundang Hospital, Seongnam, Korea.
⁴ Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
⁵ Department of Laboratory Medicine, Seoul National University Bundang Hospital, Seongnam, Korea. songjhcp@snu.ac.kr.

PMID: 30809990
PMCID: PMC6400724
DOI: 10.3343/alm.2019.39.4.411

A Multiplex Phytosterol Assay Utilizing Gas Chromatography-Mass Spectrometry for Diagnosis of Inherited Lipid Storage Disorders

Joon Hee Lee et al. Ann Lab Med. 2019 Jul.

. 2019 Jul;39(4):411-413.

doi: 10.3343/alm.2019.39.4.411.

Authors

Joon Hee Lee^{1

2}, Kyunghoon Lee^{1

3}, Sun Hee Jun³, Sang Hoon Song^{1

2}, Choong Ho Shin⁴, Junghan Song^{1

5}

Affiliations

¹ Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Korea.
² Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Korea.
³ Department of Laboratory Medicine, Seoul National University Bundang Hospital, Seongnam, Korea.
⁴ Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
⁵ Department of Laboratory Medicine, Seoul National University Bundang Hospital, Seongnam, Korea. songjhcp@snu.ac.kr.

PMID: 30809990
PMCID: PMC6400724
DOI: 10.3343/alm.2019.39.4.411

No abstract available

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Conflict of interest statement

No potential conflicts of interest relevant to this article were reported.

Figures

Fig. 1. Comparison of phytosterol levels between NCs (N=18) and patients with CTX (N=5) and sitosterolemia (N=4). The outer horizontal lines at both ends depict the upper and lower quartile values, and the middle horizontal line depicts the median. P value was calculated using the Mann–Whitney U test.
Abbreviations: NC, normal control; CTX, cerebrotendinous xanthomatosis.

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References

1. Kuriyama M, Fujiyama J, Kasama T, Osame M. High levels of plant sterols and cholesterol precursors in cerebrotendinous xanthomatosis. J Lipid Res. 1991;32:223–229. - PubMed
1. Yoo EG. Sitosterolemia: a review and update of pathophysiology, clinical spectrum, diagnosis, and management. Ann Pediatr Endocrinol Metab. 2016;21:7–14. - PMC - PubMed
1. Kidambi S, Patel SB. Sitosterolaemia: pathophysiology, clinical presentation and laboratory diagnosis. J Clin Pathol. 2008;61:588–594. - PubMed
1. Escola-Gil JC, Quesada H, Julve J, Martin-Campos JM, Cedo L, Blanco-Vaca F. Sitosterolemia: diagnosis, investigation, and management. Curr Atheroscler Rep. 2014;16:424. - PubMed
1. CSLI. Evaluation of the linearity of quantitative measurement procedures: a statistical approach; approved guideline. Wayne, PA: Clinical and Laboratory Standards Institute; 2003. CLSI document EP06-A.

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[1] Kuriyama M, Fujiyama J, Kasama T, Osame M. High levels of plant sterols and cholesterol precursors in cerebrotendinous xanthomatosis. J Lipid Res. 1991;32:223–229. - PubMed

[2] Kuriyama M, Fujiyama J, Kasama T, Osame M. High levels of plant sterols and cholesterol precursors in cerebrotendinous xanthomatosis. J Lipid Res. 1991;32:223–229. - PubMed

[3] Yoo EG. Sitosterolemia: a review and update of pathophysiology, clinical spectrum, diagnosis, and management. Ann Pediatr Endocrinol Metab. 2016;21:7–14. - PMC - PubMed

[4] Yoo EG. Sitosterolemia: a review and update of pathophysiology, clinical spectrum, diagnosis, and management. Ann Pediatr Endocrinol Metab. 2016;21:7–14. - PMC - PubMed

[5] Kidambi S, Patel SB. Sitosterolaemia: pathophysiology, clinical presentation and laboratory diagnosis. J Clin Pathol. 2008;61:588–594. - PubMed

[6] Kidambi S, Patel SB. Sitosterolaemia: pathophysiology, clinical presentation and laboratory diagnosis. J Clin Pathol. 2008;61:588–594. - PubMed

[7] Escola-Gil JC, Quesada H, Julve J, Martin-Campos JM, Cedo L, Blanco-Vaca F. Sitosterolemia: diagnosis, investigation, and management. Curr Atheroscler Rep. 2014;16:424. - PubMed

[8] Escola-Gil JC, Quesada H, Julve J, Martin-Campos JM, Cedo L, Blanco-Vaca F. Sitosterolemia: diagnosis, investigation, and management. Curr Atheroscler Rep. 2014;16:424. - PubMed

[9] CSLI. Evaluation of the linearity of quantitative measurement procedures: a statistical approach; approved guideline. Wayne, PA: Clinical and Laboratory Standards Institute; 2003. CLSI document EP06-A.

[10] CSLI. Evaluation of the linearity of quantitative measurement procedures: a statistical approach; approved guideline. Wayne, PA: Clinical and Laboratory Standards Institute; 2003. CLSI document EP06-A.

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A Multiplex Phytosterol Assay Utilizing Gas Chromatography-Mass Spectrometry for Diagnosis of Inherited Lipid Storage Disorders

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A Multiplex Phytosterol Assay Utilizing Gas Chromatography-Mass Spectrometry for Diagnosis of Inherited Lipid Storage Disorders

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