Dolichol kinase deficiency

Dolichol kinase deficiency
Dolichol kinase deficiency
Classification and external resources
OMIM 610768

Dolichol kinase deficiency is a cutaneous condition caused by a mutation in the dolichol kinase gene.[1][2]

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

See also

References

  1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0. 
  2. ^ 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. http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)60092-5. 
v · d · e(LSD) Inborn error of carbohydrate metabolism: glycoproteinosis (E77, 271.8)
Anabolism
Dolichol kinase deficiency · Congenital disorder of glycosylation
Post-translational modification
of lysosomal enzymes
Catabolism
Other

M: MET

mt, k, c/g/r/p/y/i, f/h/s/l/o/e, a/u, n, m

k, cgrp/y/i, f/h/s/l/o/e, au, n, m, epon

m(A16/C10),i(k, c/g/r/p/y/i, f/h/s/o/e, a/u, n, m)

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