Deficit mevalonát kinázy	Mevalonate kinase deficiency	OMIM: 251170
Deficit 3beta-hydroxysteroid-dehydrogenázy	3b-Hydroxysteroid dehydrogenase deficiency	OMIM: 308050
Deficit 3beta-hydroxysteroid-isomerázy	3b-Hydroxysteroid-D⁸, D⁷-isomerase deficiency	OMIM: 302960
Deficit 3beta-hydroxyst.-redukt. (Blau 30.4)	3beta-Hydroxysteroid-D²⁴-reductase deficiency	OMIM: 125650
Deficit 3beta-hydroxyst.-redukt. (Blau 30.5)	3b-Hydroxysteroid-D⁷-reductase deficiency	OMIM: 270400

Literatura

Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases. 2^nd Edition. Eds. N. Blau, M. Duran, M. E. Blaskovics, K.M. Gibson. Springer Verlag, Berlin Heidelberg, 2003. ISBN 3-540-42542-x.

Poruchy biosyntézy cholesterolu