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lathosterolosis

MIM.607330 11q23.3

Friday 14 November 2003

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)