Congenital disorder of glycosylation, type ia

Overview

Are there different types of congenital disorder of glycosylation type 1A?

There are three types of congenital disorder of glycosylation type 1A (more commonly now called PMM2-CDG or phosphomannomutase 2 congenital disorder of glycosylation). The first is called the infantile multisystem type. The symptoms of this this type include developmental delay, hypotonia (muscle weakness), abnormal distribution of fat, inverted nipples, strabismus (eyes that do not look in the same direction), failure to thrive (failure to gain weight and grow at the expected rate), an underdeveloped cerebellum (the part of the brain that coordinates movement), as well as distinctive facial features such as a high forehead, a triangular face, large ears, and a thin upper lip. These individuals can also have seizures, pericardial effusion (fluid around the heart), elevated liver function tests, and blood clotting disorders. About 20% of individuals with congenital disorder of glycosylation type 1A pass away in the first year of life due to multiple organ failures. Individuals that survive infancy may have moderate intellectual disability. Some people may be unable to walk independently. They may also have stroke-like episodes where they have an extreme lack of energy (lethargy) and temporary paralysis, which may take a few weeks to several months to recover from. In the most severe cases, hydrops fetalis can develop during the pregnancy. This is a condition where fluid builds up in the body. The majority of these babies are stillborn or die soon after birth.

The second type is called the late-infantile and childhood ataxia-intellectual disability type. In this type, the age of onset ranges from about 3-10 years. It is characterized by hypotonia, ataxia, severe language and motor delays, inability to walk, and intellectual disability. As these individuals reach adolescence or adulthood, they can have peripheral neuropathy (reduced sensation and weakness in the arms and legs), kyphoscoliosis (abnormal curvature of the spine), ataxia (abnormal muscle coordination), and joint deformities. Some can also have retinitis pigmentosa, which causes vision loss.

The third type is called the adult stable disability type. In this type, intellectual ability is stable, peripheral neuropathy can vary in severity, and spinal deformities can be progressive. In addition, females with the condition have hypergonadotropic hypogonadism, which causes them to not go through puberty. Males do go through puberty but often have small testes. These individuals can also have blood clotting disorders and insulin resistance.

The best person to figure out whether an individual has congenital disorder of glycosylation type 1A 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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More Overview Content

What is congenital disorder of glycosylation type 1A?

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

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

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

How common is congenital disorder of glycosylation type 1A?

What is congenital disorder of glycosylation type 1A?

Congenital disorder of glycosylation type 1A (CDG-Ia) is a genetic disorder. In CDG-Ia, the body has a problem with adding sugar molecules to proteins (this process is called "glycosylation"). Glycosylation is an important process to tell proteins where to go, how to be modified, and how to work. Because proteins all over the body need to be glycosylated to work properly, people who have CDG-Ia can have many different medical concerns that can affect many different body systems.

The best person to figure out whether an individual has CDG-Ia 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
Are there other names for congenital disorder of glycosylation type 1A?

Congenital disorder of glycosylation type 1A is the most common name for the disorder. However, other names are listed below.

  1. PMM2-congential disorder of glycosylation (PMM2-CDG)
  2. CDG-Ia
  3. Jaeken syndrome
  4. phosphomannomutase 2 deficiency
  5. CDGS-1a
  6. PMM deficiency
  7. PMM2-CDG
What is the usual abbreviation for congenital disorder of glycosylation type 1A?

Congenital disorder of glycosylation type 1A can be abbreviated CDG-Ia. The other common name for the condition, PMM2-congenital disorder of glycosylation, can be abbreviated as PMM2-CDG.

Always look for a sentence explaining what "CDG" stands for in an article, website or document to know exactly what the abbreviation means.

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

Congenital disorder of glycosylation type 1A (CDG-Ia) is a genetic condition. This means that it is caused by a mutation (change) in a gene. A gene is an instruction for our bodies on how to function and develop. The gene that has a mutation in this condition is called the PMM2 gene. When there are mutations in both copies of the PMM2 gene, it cannot do its job as well.

In order to learn more about the specific genes involved in CDG-Ia, 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
How common is congenital disorder of glycosylation type 1A?

Congenital disorder of glycosylation type 1A is the most common congenital disorder of glycosylation (CDG). However, it is still considered a rare genetic condition. Overall, all congenital disorders of glycosylation are thought to affect about 1 in 50,000 to 1 in 100,000 people. However, congenital disorder of glycosylation type 1A could be as high as 1 in 20,000 newborns of European ancestry.

In order to learn more about the specific genes involved in CDG-Ia 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
  • Jaeken J, Matthijs G. Congenital disorders of glycosylation. Annu Rev Genomics Hum Genet. 2001;2:129-51.
  • Matthijs G, et al. Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia). Hum Mutat. 2000;16:386-94.
  • PMM2-CDG (CDG-Ia). Gene Reviews. http://www.ncbi.nlm.nih.gov/books/NBK1110/

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