Dolichol kinase deficiency

Dolichol kinase deficiency
Other names	Hypotonia and ichthyosis due to dolichol phosphate deficiency^[1]

This condition is inherited in an autosomal recessive manner.
Specialty	Medical genetics

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

References

^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: DK1 CDG". www.orpha.net. Retrieved 11 April 2019.{{cite web}}: CS1 maint: numeric names: authors list (link)
^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
^ 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.

v t e Lysosomal storage diseases: Inborn errors of carbohydrate metabolism (Glycoproteinoses)
Anabolism	Dolichol kinase deficiency Congenital disorder of glycosylation
Post-translational modification of lysosomal enzymes	Mucolipidosis: I-cell disease (ML II) Pseudo-Hurler polydystrophy (ML III)
Catabolism	Aspartylglucosaminuria Fucosidosis mannosidosis Alpha-mannosidosis Beta-mannosidosis Sialidosis Schindler disease
Other	solute carrier family (Salla disease) Galactosialidosis

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This page was last edited on 5 May 2024, at 05:13

Classification	D ICD-11: 5C54.2 ICD-10: E77.8 OMIM: 610768 MeSH: C563666
External resources	GARD: dk1-cdg Orphanet: 91131