Dolichol kinase deficiency
Dolichol kinase deficiency |
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Classification and external resources |
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OMIM |
610768 |
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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
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| Anabolism | |
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| Post-translational modification of lysosomal enzymes | |
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| Catabolism | |
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| Other | |
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| Description |
- Metabolism
- Enzymes and pathways: citric acid cycle
- pentose phosphate
- glycoproteins
- glycosaminoglycans
- phospholipid
- cholesterol and steroid
- sphingolipids
- eicosanoids
- amino acid
- urea cycle
- nucleotide
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| Disorders |
- Citric acid cycle and electron transport chain
- Glycoprotein
- Proteoglycan
- Fatty-acid
- Phospholipid
- Cholesterol and steroid
- Eicosanoid
- Amino acid
- Purine-pyrimidine
- Heme metabolism
- Symptoms and signs
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| Treatment | |
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