Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Desmosterolosis
Introduction
Overview
Overview
Desmosterolosis is rare disorder characterized by multiple congenital anomalies and elevated levels of the desmosterol in plasma, tissue, and cultured cells.
Pathophysiology
Pathophysiology
Genetics
- It is a rare autosomal recessive disorder.
- It has been associated with 24-dehydrocholesterol reductase.[1]
- It results in an accumulation of desmosterol.[2]
Diagnosis
Diagnosis
Physical Examination
Appearance of the Patient
Head
X Ray
References
References
- ↑ Waterham HR, Koster J, Romeijn GJ; et al. (2001). “Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis”. Am. J. Hum. Genet. 69 (4): 685–94. doi:10.1086/323473. PMC 1226055. PMID 11519011. Unknown parameter
|month=ignored (help) - ↑ FitzPatrick DR, Keeling JW, Evans MJ; et al. (1998). “Clinical phenotype of desmosterolosis”. Am. J. Med. Genet. 75 (2): 145–52. doi:10.1002/(SICI)1096-8628(19980113)75:2<145::AID-AJMG5>3.0.CO;2-S. PMID 9450875. Unknown parameter
|month=ignored (help)
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Kalsang Dolma, M.B.B.S.[2]