Dolichol kinase deficiency

Dolichol kinase deficiency
Classification and external resources
ICD-10	E77.8
OMIM	610768
Orphanet	91131

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

References

↑ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
↑ 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. PMC 1821118 . PMID 17273964. doi:10.1086/512130.

(LSD) Inborn error of carbohydrate metabolism: glycoproteinosis (E77, 271.8)
Anabolism	Dolichol kinase deficiency Congenital disorder of glycosylation
Post-translational modification of lysosomal enzymes	Mucolipidosis: I-cell disease/II Pseudo-Hurler polydystrophy/III
Catabolism	Aspartylglucosaminuria Fucosidosis mannosidosis Alpha-mannosidosis Beta-mannosidosis Sialidosis Schindler disease
Other	solute carrier family (Salla disease) Galactosialidosis

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