Assessment
Questionnaire

Have a symptom?
See what questions
a doctor would ask.
 

What is Congenital disorder of glycosylation type 1H?

What is Congenital disorder of glycosylation type 1H?

  • Congenital disorder of glycosylation type 1H: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type Ih is caused by a defect on chromosome 11pter-p15.5 and involves the gene for a particular enzyme (dolichyl-P-glucose:Glc-1-Man-9-GlcNAc-2-PP-dolichyl-alpha-3-glucosyltransferase).

Congenital disorder of glycosylation type 1H: Introduction

Types of Congenital disorder of glycosylation type 1H:

Broader types of Congenital disorder of glycosylation type 1H:

What causes Congenital disorder of glycosylation type 1H?

Causes of Congenital disorder of glycosylation type 1H: see causes of Congenital disorder of glycosylation type 1H

What are the symptoms of Congenital disorder of glycosylation type 1H?

Symptoms of Congenital disorder of glycosylation type 1H: see symptoms of Congenital disorder of glycosylation type 1H

Congenital disorder of glycosylation type 1H: Testing

Diagnostic testing: see tests for Congenital disorder of glycosylation type 1H.

Misdiagnosis: see misdiagnosis and Congenital disorder of glycosylation type 1H.

How is it treated?

Doctors and Medical Specialists for Congenital disorder of glycosylation type 1H: Medical Geneticist ; see also doctors and medical specialists for Congenital disorder of glycosylation type 1H.
Treatments for Congenital disorder of glycosylation type 1H: see treatments for Congenital disorder of glycosylation type 1H

Name and Aliases of Congenital disorder of glycosylation type 1H

Main name of condition: Congenital disorder of glycosylation type 1H

Other names or spellings for Congenital disorder of glycosylation type 1H:

CDG Ih, CDG 1h, CDG syndrome type Ih

 

By using this site you agree to our Terms of Use. Information provided on this site is for informational purposes only; it is not intended as a substitute for advice from your own medical team. The information on this site is not to be used for diagnosing or treating any health concerns you may have - please contact your physician or health care professional for all your medical needs. Please see our Terms of Use.

Home | Symptoms | Diseases | Diagnosis | Videos | Tools | Forum | About Us | Terms of Use | Privacy Policy | Site Map | Advertise