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2012, Number 2

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Rev Cub Gen 2012; 6 (2)

Smith-Lemli-Opitz syndrome diagnosis through thin film chromatography

Aquino PAA, Martín GD, Rodríguez CM

Language: Spanish
References: 11
Page: 47-49
PDF size: 481.23 Kb.


ABSTRACT

Smith-Lemli-Opitz syndrome is a cholesterol congenital metabolism error, causing malformations and mental handicap. Biochemical diagnosis demonstrates the increase of 7-dehydrocholesterol by gas chromatography/mass spectrometry techniques, not always available in countries in development. A diagnosis method based upon the qualitative sterols determination by thin film chromatography is proposed in this article. The study of healthy persons did not detect any 7-dehydrocholesterol. In 21 patients with clinical characteristics of the Smith-Lemli-Opitz syndrome, thin film chromatography and gas chromatography/mass spectrometry determinations were carried out, diagnosing 10 patients, with a total coincidence in the results produced by both methods. In four other patients, positive according to thin film chromatography, the two mutations causing the disease were identified. These results endorse the usefulness of the method proposed for diagnosing the Smith-Lemli-Opitz syndrome.


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