Dolichol kinase deficiency

Dolichol kinase deficiency
Dolichol kinase deficiency
Other names	Hypotonia and ichthyosis due to dolichol phosphate deficiency
	This condition is inherited in an autosomal recessive manner.
Specialty	Medical genetics

Other namesHypotonia and ichthyosis due to dolichol phosphate deficiency^[1]

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

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

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

References