Conditions / Genetic
congenital disorder of glycosylation Im
info · Genetic
A congenital disorder of glycosylation I that is characterized by muscular hypotonia and ichthyosis and has_material_basis_in homozygous mutation in the DOLK gene, which encodes the enzyme responsible for the final step of the de novo biosynthesis of dolichol
A congenital disorder of glycosylation I that is characterized by muscular hypotonia and ichthyosis and has_material_basis_in homozygous mutation in the DOLK gene, which encodes the enzyme responsible for the final step of the de novo biosynthesis of dolichol phosphate, on chromosome 9q34.
Signs and symptoms
- Type I transferrin isoform profile
- Hypotonia
- Ichthyosis
- Dry skin
- Failure to thrive
- Dilated cardiomyopathy
- Hypsarrhythmia
- Alopecia
- Seizure
- Sparse eyebrow
Also known as: DOLK-congenital disorder of glycosylation; congenital disorder of glycosylation 1m; dolichol kinase deficiency