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Pathway Description
Desmosterolosis
Homo sapiens
Disease Pathway
Created: 2022-11-08
Last Updated: 2023-10-25
Desmosterolosis is caused by a mutation in the DHCR24 gene, which codes for the enzyme 24-dehydrocholesterol reductase, which catalyzes the reduction of the delta-24 double bond of sterol intermediates. A defect in 24-dehydrocholesterol reductase causes accumulation of desmosterol in plasma. Symptoms include cleft palate, clubfoot, dysmorphism, mental and motor retardation, and speech development.
References
Desmosterolosis References
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