Lathosterolosis: An Extremely Rare Inherited Condition Associated With Progressive Liver Disease

J Pediatr Gastroenterol Nutr. 2019 Nov;69(5):e142-e145. doi: 10.1097/MPG.0000000000002434.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple*
  • Child
  • Diagnosis, Differential
  • Disease Progression
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Hydroxymethylglutaryl-CoA Reductase Inhibitors / therapeutic use
  • Liver Diseases / complications
  • Liver Diseases / diagnosis*
  • Liver Diseases / drug therapy
  • Oxidoreductases Acting on CH-CH Group Donors / deficiency*
  • Simvastatin / therapeutic use
  • Steroid Metabolism, Inborn Errors / complications
  • Steroid Metabolism, Inborn Errors / diagnosis*
  • Steroid Metabolism, Inborn Errors / drug therapy

Substances

  • Hydroxymethylglutaryl-CoA Reductase Inhibitors
  • Simvastatin
  • Oxidoreductases Acting on CH-CH Group Donors

Supplementary concepts

  • Lathosterolosis