Copyright
©The Author(s) 2017.
World J Gastroenterol. Aug 7, 2017; 23(29): 5257-5265
Published online Aug 7, 2017. doi: 10.3748/wjg.v23.i29.5257
Published online Aug 7, 2017. doi: 10.3748/wjg.v23.i29.5257
Table 1 Inherited defects of cholesterol biosynthesis in humans
Disorder | OMIM# | Frequency | Enzyme (blood biomarkers) | Primary site of expression | Treatable | Ref. |
SLOS | 270400 | 1:20000/1:50000 | 7-dehydrocholesterol reductase (7-dehydrocholesterol, 8-dehydrocholesterol) | Multisystemic | Yes | [28,36] |
Mild cases | ||||||
Desmosterolosis | 602398 | 9 cases | 3β-hydroxysterol-∆24-reductase (desmosterol) | Multisystemic | No | [25,37] |
CDPX21 | 302960 | ≤ 1:400000 | 3β-hydroxysteroid-∆8,∆7-sterol isomerase [8-dehydrocholesterol, cholesta-8(9)-en-3β-ol] | Skin and skeletal systems | No | [25,38] |
CHILD syndrome | 308050 | < 1:1000000 | 3β-hydroxysteroid dehydrogenase [4α-carboxymethylcholest-8(9)-en-3β-ol, 4α-monomethyl-and 4,4’-dimethylsterols]2 | Skin and skeletal systems | No | [25,39] |
Lathosterolosis | 607330 | 4 cases | 3β-hydroxysteroid-∆5-desaturase (lathosterol) | Multisystemic | Yes | [40-43] |
Two cases | ||||||
Antley-Bixler syndrome3 | 201750 | > 100 cases | Lanosterol 14α-demethylase (lanosterol, dihydrolanosterol)2 | Skin and genital systems | No | [44,45] |
Greenberg dysplasia | 215140 | 11 cases | Sterol-∆14-reductase (cholesta-8,14-dien-3β-ol, cholesta-8,14,24-trien-3β-ol)2 | Skeletal system | No | [25,46] |
CK syndrome | 300831 | 13 cases | 3β-hydroxysteroid dehydrogenase (4α-monomethyl- and 4,4’-dimethylsterols)2 | Nervous system | No | [25,47,48] |
SC4MOL deficiency | 616834 | 5 cases | Sterol-C4-methyl oxidase (4α-monomethyl- and 4,4’-dimethylsterols) | Skin and eye | Yes | [49,50,88] |
Systems | One case |
- Citation: Corso G, Dello Russo A, Gelzo M. Liver and the defects of cholesterol and bile acids biosynthesis: Rare disorders many diagnostic pitfalls. World J Gastroenterol 2017; 23(29): 5257-5265
- URL: https://www.wjgnet.com/1007-9327/full/v23/i29/5257.htm
- DOI: https://dx.doi.org/10.3748/wjg.v23.i29.5257