lathosterolosis

Definition: Autosomal recessive malformative disease due to a deficiency of 3beta-hydroxysteroid-delta5-desaturase (lathosterolosis) by mutations in the 3beta-hydroxysteroid-Delta(5)-desaturase (SC5D) (12189593) in the post-squalene cholesterol biosynthesis pathway.

Synopsis

 microcephaly
 sloping forehead
  micrognathia
 lung philtrum
 bitemporal narrowing
 conductive hearing loss
 epicanthal folds
 ptosis
 cataract
 anteverted nares
 broad nasal bridge
 prominent upper lip
 high-arched palate
 thin lips
 intrahepatic cholestasis
 biliary tract
 bilobate gallbladder
 pyelectasis
 osteoporosis
 sagittal vertebral cleft
 postaxial hexadactyly
 postaxial hexadactyly
 clubfeet
 syndactyly
 hypotonia
 mental retardation
 Arnold Chiari malformation type 2
 lumbosacral meningocele
 anisopoikilocytosis
 acanthocytes
 schistocytes
 large platelets
 vacuolated monocytes
 elevated transaminases
 hyperbilirubinemia
 elevated lathosterol
 absent 7-dehydrocholesterol
 decreased 3-beta-hydroxysteroid-delta-5-desaturase (SC5D)
 elevated gamma-glutamyltransferase
 elevated alkaline phosphatase
 elevated ammonia
 normal cholesterol
  fibroblasts show lamellar lysosomal inclusions on electron microscopy

Etiology

 deficiency of 3beta-hydroxysteroid-delta5-desaturase (lathosterolosis) by mutations in the 3beta-hydroxysteroid-Delta(5)-desaturase (SC5D) (12189593)