Lathosterolosis is an
inborn error of cholesterol biosynthesis caused by a deficiency of the enzyme
3-beta-hydroxysteroid-delta-5-desaturase. This leads to a flaw in the conversion of
lathosterol
Lathosterol is a cholesterol
Cholesterol is any of a class of certain organic molecules called lipids. It is a sterol (or modified steroid), a type of lipid. Cholesterol is biosynthesized by all animal cells and is an essential structur ...
to
7-dehydrocholesterol. Characteristics include
facial dysmorphism,
congenital malformations,
failure to thrive,
developmental delay, and
liver illness.
[ Brunetti-Pierri et al. originally described Lathosterolosis in 2002.]
See also
* SC5DL
* Lathosterol
Lathosterol is a cholesterol
Cholesterol is any of a class of certain organic molecules called lipids. It is a sterol (or modified steroid), a type of lipid. Cholesterol is biosynthesized by all animal cells and is an essential structur ...
References
External links
Cholesterol and steroid metabolism disorders
{{endocrine-disease-stub