Dolichol kinase deficiency
Other namesHypotonia and ichthyosis due to dolichol phosphate deficiency[1]
This condition is inherited in an autosomal recessive manner.

Dolichol kinase deficiency is a cutaneous condition caused by a mutation in the dolichol kinase gene.[2][3]

It is also known as Congenital disorder of glycosylation 1m.

See also

References

  1. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: DK1 CDG". www.orpha.net. Retrieved 11 April 2019.((cite web)): CS1 maint: numeric names: authors list (link)
  2. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
  3. ^ Kranz C, Jungeblut C, Denecke J, et al. (March 2007). "A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy". Am. J. Hum. Genet. 80 (3): 433–40. doi:10.1086/512130. PMC 1821118. PMID 17273964.

External links

Classification
Lysosomal storage diseases: Inborn errors of carbohydrate metabolism (Glycoproteinoses)
Categories