Congenital disorder of glycosylation, type ib

Overview

What is congenital disorder of glycosylation type 1B?

Congenital disorder of glycosylation type 1B (CDG-Ib) is a genetic condition in which the body has problems in making glycoproteins. Glycoproteins are proteins in our bodies that have small molecules called carbohydrates attached to them. If an individual can't form glycoproteins correctly, their body cannot grow and function well.

If not found early in life and treated, individuals have many health problems including inability to grow at the expected rate (failure to thrive), hypotonia (low muscle tone), vomiting, hypoglycemia (low blood sugar), severe diarrhea because they have an intestinal condition called "protein-losing enteropathy", easy bleeding due to problems forming blood clots, and liver disease. CDG-Ib doesn't cause learning problems or lead to problems with the brain like other forms of congenital disorders of glycosylation.

CDG-Ib is treated by taking supplements of a sugar called mannose. This life-long therapy is requied in order to live a relatively normal life with decreased symptoms. Without this treatment these people typically pass away from life-threating disease symptoms.

The best person to figure out whether an individual has CDG-Ib is a doctor who specializes in metabolic disorders, such as a biochemical geneticist. A biochemical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website .

References
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Are there other names for congenital disorder of glycosylation type 1B?

How common is congenital disorder of glycosylation type 1B?

What is the usual abbreviation for congenital disorder of glycosylation type 1B?

Is congenital disorder of glycosylation type 1B a genetic condition?

Is congenital disorder of glycosylation type 1B more common in any ethnic groups?

Is congenital disorder of glycosylation type 1B more common in males or females?

What is the prognosis for children and individuals with congenital disorder of glycosylation type 1B?

Are there other names for congenital disorder of glycosylation type 1B?

Congenital disorder of glycosylation type 1B is one of the most commonly used names but there are other names for it as well. Other names include:

  • CDG-Ib
  • MPI-CDG (preferred name)
  • CDG, gastrointestinal type
  • Mannosephosphate isomerase deficiency
  • MPI deficiency
  • Protein-losing enteropathy-hepatic fibrosis syndrome
  • Saguenay-Lac Saint-Jean Syndrome (SLSJ syndrome)

If you have questions about the name of the disorder, you can consult a website such as http://www.omim.org to see what other names the disorder has.

References
How common is congenital disorder of glycosylation type 1B?

Congenital disorder of glycosylation type 1B (CDG-Ib) is an extremely rare genetic condition. Overall, all congenital disorders of glycosylation are thought to affect about 1 in 50,000 to 1 in 100,000. However congenital disorder of glycosylation type 1B itself is unknown since it is so rare. There have been approximately 20 individuals described in the literature with CDG-Ib.

The best person to figure out whether an individual has CDG-Ib is a doctor who specializes in metabolic disorders, such as a biochemical geneticist. A biochemical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website .

References
What is the usual abbreviation for congenital disorder of glycosylation type 1B?

Congenital disorder of glycosylation type 1B can be abbreviated CDG-Ib. The other common name for the condition, mannosephosphate isomerase deficiency can be abbreviated as MPI-CDG.

When reviewing websites and other information about CDG-Ib, always look for a sentence that explains the abbreviation.

References
Is congenital disorder of glycosylation type 1B a genetic condition?

Congenital disorder of glycosylation type 1B (CDG-Ib) is an autosomal recessive genetic condition. This means that is passed down through families. It is caused by having a mutation (change) in both copies of the MPI gene. A gene is an instruction to our bodies on how to function and develop. The gene that has a mutation in this condition is called the MPI gene. When a person has a mutation in both copies of their MPI genes, the gene does not work properly.

In order to learn more about the gene involved in CDG-Ib, people can speak with a geneticist or a genetic counselor. Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

References
Is congenital disorder of glycosylation type 1B more common in any ethnic groups?

Congenital disorder of glycosylation type 1B (CDG-Ib) can be seen worldwide. There is a common mutation seen in the Saguenay-Lac Saint-Jean population in Quebec. However, the exact number of affected individuals is unknown.

The best person to figure out whether an individual has CDG-Ib is a doctor who specializes in metabolic disorders, such as a biochemical geneticist. A biochemical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website .

References
Is congenital disorder of glycosylation type 1B more common in males or females?

Congenital disorder of glycosylation type 1B affects both males and females equally. It is an autosomal recessive condition, meaning that males and females are at the same risk to have the condition if both parents are known to be carriers of a mutation in the MPI gene.

References
What is the prognosis for children and individuals with congenital disorder of glycosylation type 1B?

The treatment for CDG-Ib is supplementation with mannose. With this treatment, individuals can have a normal life. This treatment must continue throughout life. Without the treatment, it is likely that these individuals will pass away due to the severe physical symptoms associated with the disorder. Symptoms can range from severe developmental delay and hypotonia (low muscle tone), to having hypoglycemia (low blood sugar) and an intestinal condition called (protein-losing enteropathy). This condition may lead to leaking fluid into the intestine from the lymphatic system. The lymphatic system carries fluid called lymph throughout the body. These individuals also can have diarrhea, problems with clotting.

References
  • Jaeken J, Matthijs G. Congenital disorders of glycosylation. Annu Rev Genomics Hum Genet. 2001;2:129–51.
  • Congenital Disorder of Glycosylation, Type Ib; CDG1B. OMIM. http://www.omim.org/entry/602579

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