Question 1

What is DK1-congenital disorder of glycosylation?

Accepted Answer

DK1-congenital disorder of glycosylation (DK1-CDG) is a rare genetic condition characterized primarily by muscular hypotonia and a skin condition known as ichthyosis. The condition has been described in four children from two consanguineous families. In the reported cases, all affected children died during early infancy, with dilated cardiomyopathy being a contributing factor in two instances.

This condition is caused by a deficiency in the enzyme dolichol kinase 1, which is essential for the de novo biosynthesis of dolichol phosphate. Mutations in the DK1 gene lead to a significant reduction (96 to 98%) in enzyme activity, resulting in the features seen in affected individuals.

Question 2

What are the symptoms of DK1-congenital disorder of glycosylation?

Accepted Answer

People with DK1-CDG show signs of muscular weakness (hypotonia) and skin problems, particularly ichthyosis. Some affected children also experienced heart issues, such as dilated cardiomyopathy.

Question 3

What causes DK1-congenital disorder of glycosylation?

Accepted Answer

DK1-CDG is caused by mutations in the DK1 gene, also known as DOLK. These mutations lead to a severe loss of dolichol kinase activity, which is critical for the production of dolichol phosphate. Dolichol phosphate is important for the glycosylation process, a key step in the formation of glycoproteins. Associated genes include DOLK.

Question 4

How is DK1-congenital disorder of glycosylation inherited?

Accepted Answer

DK1-congenital disorder of glycosylation follows an autosomal recessive inheritance pattern. This means a child must inherit a copy of the altered gene from both parents to develop the condition. Parents who each carry one copy typically do not show symptoms.

Question 5

How rare is DK1-congenital disorder of glycosylation?

Accepted Answer

DK1-congenital disorder of glycosylation is classified as very rare. The estimated prevalence is approximately <1 in 1,000,000. Because rare disease data can be limited, actual numbers may differ from published estimates.

Question 6

How is DK1-congenital disorder of glycosylation diagnosed?

Accepted Answer

Information about diagnosis is currently limited for this condition.

Question 7

Are there treatments for DK1-congenital disorder of glycosylation?

Accepted Answer

Information about treatment is currently limited for this condition.

Question 8

What complications can arise from DK1-congenital disorder of glycosylation?

Accepted Answer

DK1-congenital disorder of glycosylation can lead to serious complications, particularly heart issues like dilated cardiomyopathy. This heart condition can significantly affect the health of affected children and has contributed to early deaths in reported cases. It's important for families to be aware of these potential complications.

Question 9

How does DK1-congenital disorder of glycosylation affect daily life for affected children?

Accepted Answer

Children with DK1-congenital disorder of glycosylation may face challenges due to muscular weakness and skin problems like ichthyosis. These symptoms can impact their ability to move and may require special care for their skin. Daily life may involve additional medical attention and support to manage these issues.

Question 10

What is the life expectancy for someone with DK1-congenital disorder of glycosylation?

Accepted Answer

The life expectancy for individuals with DK1-congenital disorder of glycosylation is very serious. In the few cases reported, all affected children died during early infancy, primarily due to complications like heart failure. This highlights the critical nature of the condition and the need for careful medical management.

Question 11

Are there any specialists that families should consult for DK1-congenital disorder of glycosylation?

Accepted Answer

Families dealing with DK1-congenital disorder of glycosylation should consider consulting specialists such as pediatricians, cardiologists, and dermatologists. These experts can help manage the various symptoms and complications associated with the condition. Having a team of specialists can provide comprehensive care for affected children.

Organ System	Phenotype Count	Example Features
Brain and nerves	8	Seizure, Mild global developmental delay, Autistic behavior
Skin	5	Alopecia, Dry skin, Inflammatory abnormality of the skin
Heart and blood vessels	5	Enlarged and weakened heart (dilated cardiomyopathy), Bradycardia, Congestive heart failure
Muscles	3	Low muscle tone (hypotonia), Progressive muscle weakness, Severe muscular hypotonia
Eyes	3	Nystagmus, Strabismus, Visual impairment
Digestive system	3	Diarrhea, Vomiting, Elevated circulating hepatic transaminase concentration
Growth and development	2	Failure to thrive, Short stature
Head and neck	2	Secondary microcephaly, Progressive microcephaly
Lab test results	1	Elevated circulating hepatic transaminase concentration

Research Type	Count	% of Total
Research summaries	90	43%
Laboratory research	89	43%
Testing and diagnosis research	11	5%
Disease patterns and progression	10	5%
Patient case studies	3	1%
New treatment approaches	2	1%
Other research	1	0%
Clinical study results	1	0%

Kisho

DK1-congenital disorder of glycosylation

Overview

Clinical Presentation

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

DK1-congenital disorder of glycosylation

Overview

Clinical Presentation

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is DK1-congenital disorder of glycosylation?

What are the symptoms of DK1-congenital disorder of glycosylation?

What causes DK1-congenital disorder of glycosylation?

How is DK1-congenital disorder of glycosylation inherited?

How rare is DK1-congenital disorder of glycosylation?

How is DK1-congenital disorder of glycosylation diagnosed?

Are there treatments for DK1-congenital disorder of glycosylation?

What complications can arise from DK1-congenital disorder of glycosylation?

How does DK1-congenital disorder of glycosylation affect daily life for affected children?

What is the life expectancy for someone with DK1-congenital disorder of glycosylation?

Are there any specialists that families should consult for DK1-congenital disorder of glycosylation?

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications